A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness

Human Mutation

Volumn 13, Issue 1, 1999, Pages 75-81

  Al Jandal, Najma ^a   Farrar, G Jane ^a   Kiang, Anna Sophia ^a   Humphries, Marian M ^a   Bannon, Noreen ^b   Findlay, John B C ^d   Humphries, Peter ^a   Kenna, Paul F ^a,c  

^a TRINITY COLLEGE DUBLIN   (Ireland)

^b ADELAIDE AND MEATH HOSPITAL   (Ireland)

^c Dept Otolaryngol Hd Neck Surg   (Ireland)

^d NONE

Author keywords

Congenital stationary night blindness; Constitutive activation; Mutation; Rhodopsin

Indexed keywords

DNA; ISOLEUCINE; RHODOPSIN; THREONINE; TRANSDUCIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; DARK ADAPTATION; ELECTRORETINOGRAM; FEMALE; GENE MUTATION; GENE SEGREGATION; HUMAN; IRELAND; MALE; NIGHT BLINDNESS; NIGHT VISION; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

AMINO ACID SUBSTITUTION; COMPUTER SIMULATION; DARK ADAPTATION; FEMALE; HUMANS; IRELAND; ISOLEUCINE; MALE; MIDDLE AGED; MUTATION, MISSENSE; NIGHT BLINDNESS; PEDIGREE; POLYMERASE CHAIN REACTION; RHODOPSIN; THREONINE;

EID: 0032943572     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:1<75::AID-HUMU9>3.0.CO;2-4     Document Type: Article

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