Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of Familial Exudative Vitreoretinopathy

Human Mutation

Volumn 9, Issue 5, 1997, Pages 396-401

  Shastry, Barkur S ^a   Hejtmancik, James F ^b   Trese, Michael T ^c  

^a OAKLAND UNIVERSITY   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

^c WILLIAM BEAUMONT HOSPITAL   (United States)

Author keywords

autosomal; mutation; norrie disease; sporadic; vitreoretinopathy; X linked

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD SAMPLING; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; FAMILIAL DISEASE; HUMAN; MISSENSE MUTATION; NORRIE DISEASE; OPHTHALMOSCOPY; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VITREORETINOPATHY; X CHROMOSOME LINKED DISORDER;

BLINDNESS; DEAFNESS; EXUDATES AND TRANSUDATES; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MUTATION; PEDIGREE; RETINAL DISEASES; VITREOUS BODY; X CHROMOSOME;

EID: 0030902358     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:5<396::AID-HUMU3>3.0.CO;2-2     Document Type: Article

References (8)

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