A novel nonsense mutation of the GPR143 gene identified in a chinese pedigree with ocular albinism

PLoS ONE

Volumn 7, Issue 8, 2012, Pages

  Yan, Naihong ^a   Liao, Xuan ^a,b   Cai, Su ping ^c   Lan, Changjun ^b   Wang, Yun ^a   Zhou, Xiaomin ^a   Yin, Yan ^a   Yu, Wenhan ^a   Liu, Xuyang ^c  

^a SICHUAN UNIVERSITY   (China)

^b AFFILIATED HOSPITAL OF NORTH SICHUAN MEDICAL COLLEGE   (China)

^c JINAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; TYROSINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE TRANSMISSION; EXON; EYE MOVEMENT; FEMALE; FRMD7 GENE; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GPR143 GENE; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; HYPOPIGMENTATION; MALE; MOLECULAR DYNAMICS; NONSENSE MUTATION; NYSTAGMUS; OCULAR ALBINISM; OPHTHALMOLOGY; OPTICAL COHERENCE TOMOGRAPHY; STOP CODON; VISUAL ACUITY;

ADULT; ALBINISM, OCULAR; ASIAN CONTINENTAL ANCESTRY GROUP; CODON, NONSENSE; CYTOSKELETAL PROTEINS; EXONS; EYE PROTEINS; FEMALE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84865177327     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0043177     Document Type: Article

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