Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.

Journal of medical genetics

Volumn 42, Issue 6, 2005, Pages

  Lin, J ^a   Nishiguchi, K M ^a   Nakamura, M ^a   Dryja, T P ^a   Berson, E L ^a   Miyake, Y ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYP4V2 PROTEIN, HUMAN; CYTOCHROME P450;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CHINA; CONGENITAL CORNEA DYSTROPHY; ETHNOLOGY; FEMALE; GENE FREQUENCY; GENETICS; HUMAN; JAPAN; MALE; MIDDLE AGED; MIDDLE EAST; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PIGMENT EPITHELIUM; RECESSIVE GENE; SEQUENCE ALIGNMENT;

ADULT; AMINO ACID SEQUENCE; CHINA; CORNEAL DYSTROPHIES, HEREDITARY; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; HUMANS; JAPAN; MALE; MIDDLE AGED; MIDDLE EAST; MUTATION; PEDIGREE; PIGMENT EPITHELIUM OF EYE; SEQUENCE ALIGNMENT;

EID: 26244466736     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2004.029066     Document Type: Article

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