NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies

European Journal of Human Genetics

Volumn 8, Issue 10, 2000, Pages 783-787

  Bessant, David A R ^a,b   Payne, Annette M ^a   Plant, Catherine ^b   Bird, Alan C ^b   Swaroop, Anand ^c,d   Bhattacharya, Shomi S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF MICHIGAN   (United States)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Founder effect; Genetics; NRL; Retinal dystropy; Retinitis pigmentosa

Indexed keywords

PERIPHERIN; RHODOPSIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 14Q; COMPARATIVE STUDY; CONTROLLED STUDY; EXON; FAMILY HISTORY; FEMALE; FOUNDER EFFECT; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HETERODUPLEX ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MARKER GENE; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RESTRICTION MAPPING; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS;

BASIC-LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; EYE PROTEINS; FEMALE; FOUNDER EFFECT; GENES, DOMINANT; HAPLOTYPES; HETERODUPLEX ANALYSIS; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; RETINITIS PIGMENTOSA; RHODOPSIN;

EID: 0033777015     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200538     Document Type: Article

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