McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene
Identifieur interne : 004A32 ( Main/Exploration ); précédent : 004A31; suivant : 004A33McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene
Auteurs : Maria Teresa Dotti [Italie] ; Carla Battisti [Italie] ; Alessandro Malandrini [Italie] ; Antonio Federico [Italie] ; Justin P. Rubio [Australie] ; Giuseppe Circiarello [Italie] ; Anthony P. Monaco [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2000-11.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Adulte.
English descriptors
- KwdEn :
- Acanthocytosis, Adult, Case study, Chorea (diagnosis), Chorea (genetics), DNA Mutational Analysis, Diagnosis, Diagnosis, Differential, Gene, Genetic Linkage (genetics), Genetic determinism, Humans, Male, Middle Aged, Movement Disorders (genetics), Mutation, Nervous system, Phenotype, Point Mutation, Severity of Illness Index, Syndrome, X Chromosome (genetics).
- MESH :
- diagnosis : Chorea.
- genetics : Chorea, Genetic Linkage, Movement Disorders, X Chromosome.
- DNA Mutational Analysis, Diagnosis, Differential, Humans, Male, Middle Aged, Point Mutation, Severity of Illness Index, Syndrome.
Url:
DOI: 10.1002/1531-8257(200011)15:6<1282::AID-MDS1042>3.0.CO;2-2
Affiliations:
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Le document en format XML
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<term>Chorea (diagnosis)</term>
<term>Chorea (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Diagnosis</term>
<term>Diagnosis, Differential</term>
<term>Gene</term>
<term>Genetic Linkage (genetics)</term>
<term>Genetic determinism</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Movement Disorders (genetics)</term>
<term>Mutation</term>
<term>Nervous system</term>
<term>Phenotype</term>
<term>Point Mutation</term>
<term>Severity of Illness Index</term>
<term>Syndrome</term>
<term>X Chromosome (genetics)</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term>
<term>Genetic Linkage</term>
<term>Movement Disorders</term>
<term>X Chromosome</term>
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<keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Diagnosis, Differential</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Point Mutation</term>
<term>Severity of Illness Index</term>
<term>Syndrome</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Acanthocytose</term>
<term>Adulte</term>
<term>Diagnostic</term>
<term>Déterminisme génétique</term>
<term>Etude cas</term>
<term>Gène</term>
<term>McLeod syndrome</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Phénotype</term>
<term>Système nerveux</term>
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<tree><country name="Italie"><noRegion><name sortKey="Dotti, Maria Teresa" sort="Dotti, Maria Teresa" uniqKey="Dotti M" first="Maria Teresa" last="Dotti">Maria Teresa Dotti</name>
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