Autosomal recessive juvenile onset cataract associated with mutation in BFSP1

Human Genetics

Volumn 121, Issue 3-4, 2007, Pages 475-482

  Ramachandran, Ramya Devi ^a,c   Perumalsamy, Vijayalakshmi ^b   Hejtmancik, J Fielding ^c  

^a ARAVIND MEDICAL RESEARCH FOUNDATION   (India)

^b ARAVIND EYE HOSPITAL   (India)

^c NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; BEADED FILAMENT STRUCTURAL PROTEIN 1; INTERMEDIATE FILAMENT PROTEIN; PROTEIN BFSP1; SERINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATARACT; CHROMOSOME 20Q; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOLOGY; EXON; FAMILY STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HUMAN; INDIAN; INDIVIDUALITY; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; ONSET AGE; OPEN READING FRAME; PREDICTION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AGE OF ONSET; CATARACT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 20; EYE PROTEINS; GENES, RECESSIVE; HAPLOTYPES; HUMANS; INTERMEDIATE FILAMENT PROTEINS; LINKAGE (GENETICS); MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 34147101803     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0319-6     Document Type: Article

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