Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

European Journal of Human Genetics

Volumn 7, Issue 3, 1999, Pages 368-376

  Huopaniemi, Laura ^a,b   Rantala, Anne ^a,b   Forsius, Henrik ^b   Somer, Mirja ^c   De La Chapelle, Albert ^b,d   Alitalo, Tiina ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c Vaestoliitto   (Finland)

^d OHIO STATE UNIVERSITY   (United States)

Author keywords

Haplotypes; Mutation screening; Retinoschisis; X chromosome

Indexed keywords

MICROSATELLITE DNA; PHOSPHOLIPID;

ARTICLE; CELL ADHESION; CHROMOSOME XP; CONTROLLED STUDY; EXON; FINLAND; GENE MUTATION; GENEALOGY; GENETIC COUNSELING; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINOSCHISIS; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKAGE;

ADOLESCENT; EYE PROTEINS; FEMALE; FINLAND; HAPLOTYPES; HUMANS; INCIDENCE; MALE; MUTATION; PEDIGREE; RETINAL DEGENERATION; RETINAL DETACHMENT; X CHROMOSOME;

EID: 0032945504     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200300     Document Type: Article

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