High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

Pigment Cell and Melanoma Research

Volumn 27, Issue 1, 2014, Pages 59-71

  Morice Picard, Fanny ^a,b   Lasseaux, Eulalie ^a   Cailley, Dorothée ^a   Gros, Audrey ^a   Toutain, Jérome ^a   Plaisant, Claudio ^a   Simon, Delphine ^b   François, Stéphane ^b   Gilbert Dussardier, Brigitte ^c   Kaplan, Josseline ^d   Rooryck, Caroline ^a,b   Lacombe, Didier ^a,b   Arveiler, Benoit ^a,b  

^a BORDEAUX UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE BORDEAUX   (France)

^c POITIERS UNIVERSITY HOSPITAL   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Deletions; High resolution array CGH; OCA genes; Oculocutaneous albinism; Rearrangements; Whole genome sequencing

Indexed keywords

ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA SEQUENCE; EXON; GENE; GENE DELETION; GENE REARRANGEMENT; HUMAN; INTRON; MISSENSE MUTATION; OCA2 GENE; OCULOCUTANEOUS ALBINISM; PHENOTYPE; POINT MUTATION; SLC45A2 GENE; TYR GENE; TYRP1 GENE;

DELETIONS; HIGH-RESOLUTION ARRAY-CGH; OCA GENES; OCULOCUTANEOUS ALBINISM; REARRANGEMENTS; WHOLE-GENOME SEQUENCING;

ALBINISM, OCULOCUTANEOUS; ANTIGENS, NEOPLASM; BASE SEQUENCE; COMPARATIVE GENOMIC HYBRIDIZATION; GENOME-WIDE ASSOCIATION STUDY; MEMBRANE TRANSPORT PROTEINS; MONOPHENOL MONOOXYGENASE; SEQUENCE DELETION;

EID: 84890799736     PISSN: 17551471     EISSN: 1755148X     Source Type: Journal    
DOI: 10.1111/pcmr.12173     Document Type: Article

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