Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy

Biochemical and Biophysical Research Communications

Volumn 409, Issue 2, 2011, Pages 181-186

  Xiao, Xueshan ^a   Mai, Guiying ^a   Li, Shiqiang ^a   Guo, Xiangming ^a   Zhang, Qingjiong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

Bietti crystalline corneoretinal dystrophy; Chinese; CYP4V2; Mutation; Spectrum

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; CLINICAL ARTICLE; EXON; FAMILY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROFESSIONAL PRACTICE; RETINA DYSTROPHY;

ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CORNEAL DYSTROPHIES, HEREDITARY; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FUNDUS OCULI; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RETINAL DISEASES; YOUNG ADULT;

EID: 79957914595     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2011.04.112     Document Type: Article

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