Gain-of-Function Mutation of KIT Ligand on Melanin Synthesis Causes Familial Progressive Hyperpigmentation

American Journal of Human Genetics

Volumn 84, Issue 5, 2009, Pages 672-677

  Wang, Zhi Qiang ^a,b   Si, Lizhen ^a,b   Tang, Quan ^a,b   Lin, Debao ^c   Fu, Zhangjie ^a,b   Zhang, Jing ^a,b   Cui, Bin ^a,b   Zhu, Yufei ^a,b   Kong, Xianghua ^d   Deng, Min ^a,b   Xia, Yu ^a,b   Xu, Heng ^a,b   Le, Weidong ^a,b   Hu, Landian ^a,b   Kong, Xiangyin ^a,b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Shanghai Jiao Tong University Affiliated Sixth People s Hospital   (China)

^c GUIZHOU MEDICAL UNIVERSITY   (China)

^d BINZHOU MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; MELANIN; SERINE; STEM CELL FACTOR;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHINESE; CHROMOSOME 12Q; CLINICAL ARTICLE; CODON; COMPARATIVE STUDY; CONTROL GROUP; CONTROLLED STUDY; EXON; FAMILIAL PROGRESSIVE HYPERPIGMENTATION; FEMALE; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC MARKER; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERPIGMENTATION; LINKAGE ANALYSIS; MALE; MELANOGENESIS; MELANOMA CELL; PRIORITY JOURNAL; STEM CELL FACTOR GENE; WILD TYPE;

CHROMOSOMES, HUMAN, PAIR 12; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; HYPERPIGMENTATION; MALE; MELANINS; MIDDLE AGED; PEDIGREE; STEM CELL FACTOR;

EID: 65149096689     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.03.019     Document Type: Article

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