A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts

Molecular Vision

Volumn 14, Issue , 2008, Pages 1906-1911

  Ma, Xu ^a,b,c   Li, Fei Feng ^a,b   Wang, Shun Zhen ^d   Gao, Chang ^a,b   Zhang, Meng ^b   Zhu, Si Quan ^d  

^a GRADUATE SCHOOL OF PEKING UNION MEDICAL COLLEGE   (China)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^c WHO Collaborative Center for Research in Human Reproduction   (China)

^d CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; BEADED FILAMENT STRUCTURAL PROTEIN 2; CHAPERONE; GENE PRODUCT; HISTIDINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIOINFORMATICS; CHINESE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CODON USAGE; CONGENITAL CATARACT; CONTROLLED STUDY; EXON; EYE EXAMINATION; FAMILY HISTORY; FEMALE; FUNCTIONAL ASSESSMENT; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HUMAN; HYDROPHOBICITY; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MISSENSE MUTATION; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; WILD TYPE;

ALANINE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CATARACT; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENES, DOMINANT; GLYCINE; HAPLOTYPES; HUMANS; INTERMEDIATE FILAMENT PROTEINS; LINKAGE (GENETICS); LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN DENATURATION; SEQUENCE ALIGNMENT;

EID: 55349139316     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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