The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family

Molecular Vision

Volumn 13, Issue , 2007, Pages 2023-2029

  Cui, Xiaobo ^a   Gao, Linghan ^b   Jin, Yan ^a   Zhang, Yi ^a   Bai, Jing ^a   Feng, Guoyin ^b   Gao, Weiqi ^a   Liu, Ping ^a   He, Lin ^b   Fu, Songbin ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BFSP2 PROTEIN; INTERMEDIATE FILAMENT PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CHROMOSOME 3Q; CHROMOSOME MARKER; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; EXON; EYE PHOTOGRAPHY; FAMILY STUDY; FLUORESCENCE ANALYSIS; GENE DELETION; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HAPLOTYPE MAP; HUMAN; LINKAGE ANALYSIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SLIT LAMP;

AGED; AGING; ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; CHILD; CHROMOSOME MAPPING; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 3; DISEASE PROGRESSION; EXONS; EYE PROTEINS; FEMALE; GENE DELETION; GENES, DOMINANT; HAPLOTYPES; HUMANS; INTERMEDIATE FILAMENT PROTEINS; LOD SCORE; MALE; PEDIGREE;

EID: 35548990168     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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