MovDisordV3, PascalFrancis, Corpus, bibRecord, 002B00

Mcleod syndrome and neuroacanthocytosis with a novel mutation in the XK gene

Identifieur interne : 002B00 ( PascalFrancis/Corpus ); précédent : 002A99; suivant : 002B01

Mcleod syndrome and neuroacanthocytosis with a novel mutation in the XK gene

Auteurs : Maria Teresa Dotti ; Carla Battisti ; Alessandro Malandrini ; Antonio Federico ; Justin P. Rubio ; Giuseppe Circiarello ; Anthony P. Monaco

Source :

Movement disorders [ 0885-3185 ] ; 2000.

RBID : Pascal:01-0016475

Descripteurs français

Pascal (Inist)
- Acanthocytose, Système nerveux, Mutation, Gène, Phénotype, Etude cas, Déterminisme génétique, Diagnostic, Adulte, Mâle, McLeod syndrome.

English descriptors

KwdEn :
- Acanthocytosis, Adult, Case study, Diagnosis, Gene, Genetic determinism, Male, Mutation, Nervous system, Phenotype.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A03		`1`		`@0 Mov. disord.`
A05				`@2 15`
A06				`@2 6`
A08	`01`	`1`	`ENG`	`@1 Mcleod syndrome and neuroacanthocytosis with a novel mutation in the XK gene`
A11	`01`	`1`		`@1 DOTTI (Maria Teresa)`
A11	`02`	`1`		`@1 BATTISTI (Carla)`
A11	`03`	`1`		`@1 MALANDRINI (Alessandro)`
A11	`04`	`1`		`@1 FEDERICO (Antonio)`
A11	`05`	`1`		`@1 RUBIO (Justin P.)`
A11	`06`	`1`		`@1 CIRCIARELLO (Giuseppe)`
A11	`07`	`1`		`@1 MONACO (Anthony P.)`
A14	`01`			`@1 Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena @2 Siena @3 ITA @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut.`
A14	`02`			`@1 The Walter and Eliza Hall Institute of Medical Research, The Royal Melbourne Hospital @2 Victoria @3 AUS @Z 5 aut.`
A14	`03`			`@1 Servizio di Immunoematologia e Medicina Trasfusionale, Ospedale S. Maria Annunziata @2 Firenze @3 ITA @Z 6 aut.`
A14	`04`			`@1 Wellcome Trust Centre for Human Genetics, University of Oxford @2 Oxford @3 GBR @Z 7 aut.`
A20				`@1 1282-1284`
A21				`@1 2000`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000092814950420`
A44				`@0 0000 @1 © 2001 INIST-CNRS. All rights reserved.`
A45				`@0 15 ref.`
A47	`01`	`1`		`@0 01-0016475`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C02	`01`	`X`		`@0 002B19A01`
C03	`01`	`X`	`FRE`	`@0 Acanthocytose @5 01`
C03	`01`	`X`	`ENG`	`@0 Acanthocytosis @5 01`
C03	`01`	`X`	`SPA`	`@0 Acantocitosis @5 01`
C03	`02`	`X`	`FRE`	`@0 Système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso @5 02`
C03	`03`	`X`	`FRE`	`@0 Mutation @5 04`
C03	`03`	`X`	`ENG`	`@0 Mutation @5 04`
C03	`03`	`X`	`SPA`	`@0 Mutación @5 04`
C03	`04`	`X`	`FRE`	`@0 Gène @5 05`
C03	`04`	`X`	`ENG`	`@0 Gene @5 05`
C03	`04`	`X`	`SPA`	`@0 Gen @5 05`
C03	`05`	`X`	`FRE`	`@0 Phénotype @5 07`
C03	`05`	`X`	`ENG`	`@0 Phenotype @5 07`
C03	`05`	`X`	`SPA`	`@0 Fenotipo @5 07`
C03	`06`	`X`	`FRE`	`@0 Etude cas @5 17`
C03	`06`	`X`	`ENG`	`@0 Case study @5 17`
C03	`06`	`X`	`SPA`	`@0 Estudio caso @5 17`
C03	`07`	`X`	`FRE`	`@0 Déterminisme génétique @5 18`
C03	`07`	`X`	`ENG`	`@0 Genetic determinism @5 18`
C03	`07`	`X`	`SPA`	`@0 Determinismo genético @5 18`
C03	`08`	`X`	`FRE`	`@0 Diagnostic @5 19`
C03	`08`	`X`	`ENG`	`@0 Diagnosis @5 19`
C03	`08`	`X`	`SPA`	`@0 Diagnóstico @5 19`
C03	`09`	`X`	`FRE`	`@0 Adulte @5 20`
C03	`09`	`X`	`ENG`	`@0 Adult @5 20`
C03	`09`	`X`	`SPA`	`@0 Adulto @5 20`
C03	`10`	`X`	`FRE`	`@0 Mâle @5 21`
C03	`10`	`X`	`ENG`	`@0 Male @5 21`
C03	`10`	`X`	`SPA`	`@0 Macho @5 21`
C03	`11`	`X`	`FRE`	`@0 McLeod syndrome @4 INC @5 86`
C07	`01`	`X`	`FRE`	`@0 Homme`
C07	`01`	`X`	`ENG`	`@0 Human`
C07	`01`	`X`	`SPA`	`@0 Hombre`
C07	`02`	`X`	`FRE`	`@0 Hémopathie @5 37`
C07	`02`	`X`	`ENG`	`@0 Hemopathy @5 37`
C07	`02`	`X`	`SPA`	`@0 Hemopatía @5 37`
C07	`03`	`X`	`FRE`	`@0 Anémie hémolytique @5 38`
C07	`03`	`X`	`ENG`	`@0 Hemolytic anemia @5 38`
C07	`03`	`X`	`SPA`	`@0 Anemia hemolítica @5 38`
C07	`04`	`X`	`FRE`	`@0 Anomalie membrane hématie @5 39`
C07	`04`	`X`	`ENG`	`@0 Erythrocytic membrane disease @5 39`
C07	`04`	`X`	`SPA`	`@0 Anomalía membrana hematía @5 39`
C07	`05`	`X`	`FRE`	`@0 Système nerveux pathologie @5 40`
C07	`05`	`X`	`ENG`	`@0 Nervous system diseases @5 40`
C07	`05`	`X`	`SPA`	`@0 Sistema nervioso patología @5 40`
C07	`06`	`X`	`FRE`	`@0 Maladie système @5 41`
C07	`06`	`X`	`ENG`	`@0 Systemic disease @5 41`
C07	`06`	`X`	`SPA`	`@0 Enfermedad sistémica @5 41`
C07	`07`	`X`	`FRE`	`@0 Maladie héréditaire @5 42`
C07	`07`	`X`	`ENG`	`@0 Genetic disease @5 42`
C07	`07`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 42`
N21				`@1 008`

Format Inist (serveur)

NO :	PASCAL 01-0016475 INIST
ET :	Mcleod syndrome and neuroacanthocytosis with a novel mutation in the XK gene
AU :	DOTTI (Maria Teresa); BATTISTI (Carla); MALANDRINI (Alessandro); FEDERICO (Antonio); RUBIO (Justin P.); CIRCIARELLO (Giuseppe); MONACO (Anthony P.)
AF :	Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena/Siena/Italie (1 aut., 2 aut., 3 aut., 4 aut.); The Walter and Eliza Hall Institute of Medical Research, The Royal Melbourne Hospital/Victoria/Australie (5 aut.); Servizio di Immunoematologia e Medicina Trasfusionale, Ospedale S. Maria Annunziata/Firenze/Italie (6 aut.); Wellcome Trust Centre for Human Genetics, University of Oxford/Oxford/Royaume-Uni (7 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2000; Vol. 15; No. 6; Pp. 1282-1284; Bibl. 15 ref.
LA :	Anglais
CC :	002B19A01
FD :	Acanthocytose; Système nerveux; Mutation; Gène; Phénotype; Etude cas; Déterminisme génétique; Diagnostic; Adulte; Mâle; McLeod syndrome
FG :	Homme; Hémopathie; Anémie hémolytique; Anomalie membrane hématie; Système nerveux pathologie; Maladie système; Maladie héréditaire
ED :	Acanthocytosis; Nervous system; Mutation; Gene; Phenotype; Case study; Genetic determinism; Diagnosis; Adult; Male
EG :	Human; Hemopathy; Hemolytic anemia; Erythrocytic membrane disease; Nervous system diseases; Systemic disease; Genetic disease
SD :	Acantocitosis; Sistema nervioso; Mutación; Gen; Fenotipo; Estudio caso; Determinismo genético; Diagnóstico; Adulto; Macho
LO :	INIST-20953.354000092814950420
ID :	01-0016475

Links to Exploration step

Pascal:01-0016475

Le document en format XML

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<s5>17</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Case study</s0>
<s5>17</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Estudio caso</s0>
<s5>17</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Déterminisme génétique</s0>
<s5>18</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Genetic determinism</s0>
<s5>18</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Determinismo genético</s0>
<s5>18</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Diagnostic</s0>
<s5>19</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Diagnosis</s0>
<s5>19</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Diagnóstico</s0>
<s5>19</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Adulte</s0>
<s5>20</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Adult</s0>
<s5>20</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Adulto</s0>
<s5>20</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Mâle</s0>
<s5>21</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Male</s0>
<s5>21</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Macho</s0>
<s5>21</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>McLeod syndrome</s0>
<s4>INC</s4>
<s5>86</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Homme</s0>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Human</s0>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Hémopathie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Hemopathy</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Hemopatía</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Anémie hémolytique</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Hemolytic anemia</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Anemia hemolítica</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Anomalie membrane hématie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Erythrocytic membrane disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Anomalía membrana hematía</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Maladie système</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Systemic disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad sistémica</s0>
<s5>41</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>42</s5>
</fC07>
<fN21><s1>008</s1>
</fN21>
</pA>
</standard>
<server><NO>PASCAL 01-0016475 INIST</NO>
<ET>Mcleod syndrome and neuroacanthocytosis with a novel mutation in the XK gene</ET>
<AU>DOTTI (Maria Teresa); BATTISTI (Carla); MALANDRINI (Alessandro); FEDERICO (Antonio); RUBIO (Justin P.); CIRCIARELLO (Giuseppe); MONACO (Anthony P.)</AU>
<AF>Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena/Siena/Italie (1 aut., 2 aut., 3 aut., 4 aut.); The Walter and Eliza Hall Institute of Medical Research, The Royal Melbourne Hospital/Victoria/Australie (5 aut.); Servizio di Immunoematologia e Medicina Trasfusionale, Ospedale S. Maria Annunziata/Firenze/Italie (6 aut.); Wellcome Trust Centre for Human Genetics, University of Oxford/Oxford/Royaume-Uni (7 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2000; Vol. 15; No. 6; Pp. 1282-1284; Bibl. 15 ref.</SO>
<LA>Anglais</LA>
<CC>002B19A01</CC>
<FD>Acanthocytose; Système nerveux; Mutation; Gène; Phénotype; Etude cas; Déterminisme génétique; Diagnostic; Adulte; Mâle; McLeod syndrome</FD>
<FG>Homme; Hémopathie; Anémie hémolytique; Anomalie membrane hématie; Système nerveux pathologie; Maladie système; Maladie héréditaire</FG>
<ED>Acanthocytosis; Nervous system; Mutation; Gene; Phenotype; Case study; Genetic determinism; Diagnosis; Adult; Male</ED>
<EG>Human; Hemopathy; Hemolytic anemia; Erythrocytic membrane disease; Nervous system diseases; Systemic disease; Genetic disease</EG>
<SD>Acantocitosis; Sistema nervioso; Mutación; Gen; Fenotipo; Estudio caso; Determinismo genético; Diagnóstico; Adulto; Macho</SD>
<LO>INIST-20953.354000092814950420</LO>
<ID>01-0016475</ID>
</server>
</inist>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Mcleod syndrome and neuroacanthocytosis with a novel mutation in the XK gene

Mcleod syndrome and neuroacanthocytosis with a novel mutation in the XK gene

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