Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa

Human Genetics

Volumn 108, Issue 4, 2001, Pages 328-334

  Bareil, C ^a   Hamel, C P ^b   Delague, V ^a   Arnaud, B ^b   Demaille, J ^a   Claustres, M ^a  

^a INSTITUTE OF HUMAN GENETICS   (France)

^b MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CATION CHANNEL; CYCLIC GMP; CYCLIC NUCLEOTIDE; DNA; PROTEIN SUBUNIT; RNA;

ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; CASE REPORT; CHANNEL GATING; CHROMOSOME 16Q; CHROMOSOME MARKER; CONTROLLED STUDY; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PHOTORECEPTOR; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; ANIMALS; CHROMOSOME MAPPING; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 16; CYCLIC GMP; EYE PROTEINS; FEMALE; GENES, RECESSIVE; HUMANS; ION CHANNELS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RETINITIS PIGMENTOSA; ROD OUTER SEGMENTS;

EID: 0035022297     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100496     Document Type: Article

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