Three novel mutations (P215L, T289P, and 3811-2 A-->G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families.

Human mutation

Volumn 16, Issue 1, 2000, Pages 95-96

  Martinez Gimeno, M ^a   Trujillo, M J ^a   Lorda, I ^a   Gimenez, A ^a   Calvo, M T ^a   Ayuso, C ^a   Carballo, M ^a  

^a HOSPITAL DE TERRASSA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADFP PROTEIN, HUMAN; MEMBRANE PROTEIN; RHODOPSIN;

AMINO ACID SUBSTITUTION; ARTICLE; DOMINANT GENE; GENETIC POLYMORPHISM; GENETICS; HUMAN; MISSENSE MUTATION; RETINITIS PIGMENTOSA; SPAIN;

AMINO ACID SUBSTITUTION; GENES, DOMINANT; HUMANS; MEMBRANE PROTEINS; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; RETINITIS PIGMENTOSA; RHODOPSIN; SPAIN;

MLCS; MLOWN;

EID: 0034223110     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200007)16:1<95::aid-humu31>3.0.co;2-0     Document Type: Article

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