Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database

Source :

• Human Mutation [ 1059-7794 ] ; 2012-03.

Descripteurs français

• Wicri :
  • topic : Base de données, Génétique.

English descriptors

• KwdEn :
  • Abnormality, Allele, Amino, Amino acid, Amino acid level, Amino acids, Anomaly, Cdna, Cdna transcript, Coding region, Codon, Coloboma, Colobomas, Database, Deletion, Dysplasia, Eccles, Exon, Familial mutation, Family history, Frameshift mutations, Gene, Genet, Genetics, Genomic, Germline mosaicism, Hearing loss, Homeodomain, Hopital malades, Hospital boston, Human genetics, Human mutation, Hypoplasia, Independent families, Initiation codon, Intron, Isoform, Journal guidelines, Many patients, Medical genetics, Missense, Missense mutations, Missense variations, Mutation, Ndings, Nephrol, Nonsense mutations, Octapeptide, Octapeptide domain, Ocular phenotype, Ophthalmological, Optic, Optic disc, Optic nerve, Optic nerve abnormalities, Optic nerve coloboma, Original report, Papillorenal syndrome, Partial homeodomain, Pathogenic mutations, Pax2, Pax2 expression, Pax2 gene, Pax2 mutation, Pax2 mutations, Pax2 protein, Pediatrics, Phenotype, Present time, Reference sequence, Renal, Renal coloboma syndrome, Renal disease, Renal failure, Renal hypodysplasia, Renal hypoplasia, Renal phenotype, Report supp, Salomon, Sanyanusin, Schimmenti, Splice, Supp, Syndrome, Transactivation, Transactivation domain, Translation initiation codon, Unique mutations, Variable phenotype, Variant.
• Teeft :
  • Abnormality, Allele, Amino, Amino acid, Amino acid level, Amino acids, Anomaly, Cdna, Cdna transcript, Coding region, Codon, Coloboma, Colobomas, Database, Deletion, Dysplasia, Eccles, Exon, Familial mutation, Family history, Frameshift mutations, Gene, Genet, Genetics, Genomic, Germline mosaicism, Hearing loss, Homeodomain, Hopital malades, Hospital boston, Human genetics, Human mutation, Hypoplasia, Independent families, Initiation codon, Intron, Isoform, Journal guidelines, Many patients, Medical genetics, Missense, Missense mutations, Missense variations, Mutation, Ndings, Nephrol, Nonsense mutations, Octapeptide, Octapeptide domain, Ocular phenotype, Ophthalmological, Optic, Optic disc, Optic nerve, Optic nerve abnormalities, Optic nerve coloboma, Original report, Papillorenal syndrome, Partial homeodomain, Pathogenic mutations, Pax2, Pax2 expression, Pax2 gene, Pax2 mutation, Pax2 mutations, Pax2 protein, Pediatrics, Phenotype, Present time, Reference sequence, Renal, Renal coloboma syndrome, Renal disease, Renal failure, Renal hypodysplasia, Renal hypoplasia, Renal phenotype, Report supp, Salomon, Sanyanusin, Schimmenti, Splice, Supp, Syndrome, Transactivation, Transactivation domain, Translation initiation codon, Unique mutations, Variable phenotype, Variant.

Abstract

• https://api.istex.fr/document/DB0698EEC3E25720DDC27348DE497635206BA5F2/fulltext/pdf

Affiliations:

• Australie, Canada, Danemark, France, Israël, Italie, Japon, Nouvelle-Zélande, Pays-Bas, Royaume-Uni, États-Unis
• Auvergne-Rhône-Alpes, Caroline du Nord, District de Columbia, Floride, Hauts-de-France, Hollande-Méridionale, Illinois, Kentucky, Maryland, Massachusetts, Michigan, Midi-Pyrénées, Minnesota, Nord-Pas-de-Calais, Nouvelle-Galles du Sud, Occitanie (région administrative), Oregon, Pennsylvanie, Rhône-Alpes, Île-de-France
• Leyde, Lyon, Paris, Saint-Étienne, Sydney, Toulouse, Valenciennes, Washington (district de Columbia)
• Université Paris-Descartes

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 002879
• to stream Istex, to step Curation: 002879
• to stream Istex, to step Checkpoint: 000489
• to stream Main, to step Merge: 005831
• to stream Main, to step Curation: 005564

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005564 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 005564 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:DB0698EEC3E25720DDC27348DE497635206BA5F2
   |texte=   Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database
}}

This area was generated with Dilib version V0.6.33. Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024