SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism

Journal of Investigative Dermatology

Volumn 134, Issue 2, 2014, Pages 568-571

  Morice Picard, Fanny ^a,b   Lasseaux, Eulalie ^b   François, Stéphane ^a   Simon, Delphine ^a   Rooryck, Caroline ^a,b   Bieth, Eric ^c   Colin, Estelle ^d   Bonneau, Dominique ^d   Journel, Hubert ^e   Walraedt, Sophie ^f   Leroy, Bart P ^f   Meire, Francoise ^g   Lacombe, Didier ^a,b   Arveiler, Benoit ^a,b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b BORDEAUX UNIVERSITY HOSPITAL   (France)

^c TOULOUSE UNIVERSITY HOSPITAL   (France)

^d UNIVERSITÉ D'ANGERS   (France)

^e Service de Génétique Médicale et Oncogénétique   (France)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

EXON; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HAIR COLOR; HETEROZYGOSITY; HUMAN; LETTER; MELANOSOME; MISSENSE MUTATION; NYSTAGMUS; OCULOCUTANEOUS ALBINISM; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN PIGMENTATION; SLC 23 A 5 GENE; VISUAL ACUITY;

ADOLESCENT; ALBINISM, OCULOCUTANEOUS; ANTIPORTERS; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; YOUNG ADULT;

EID: 84892792012     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.360     Document Type: Letter

References (14)

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