Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21

Human Molecular Genetics

Volumn 9, Issue 14, 2000, Pages 2107-2116

  Kohl, Susanne ^a   Baumann, Britta ^a   Broghammer, Martina ^a   Jägle, Herbert ^a   Sieving, Paul ^b   Kellner, Ulrich ^c   Spegal, Robert ^d   Anastasi, Mario ^e   Zrenner, Eberhart ^a   Sharpe, Lindsay T ^a   Wissinger, Bernd ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF MICHIGAN   (United States)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d Micronesia Human Resource Development Center   (Federated States of Micronesia)

^e Clinica Oculistica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; CONTIG; CYCLIC GMP; CYCLIC NUCLEOTIDE; POLYPEPTIDE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BETA CHAIN; CHANNEL GATING; CHROMOSOME 2Q; CHROMOSOME 8Q; CHROMOSOME SEGREGATION; COLOR BLINDNESS; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MISSENSE MUTATION; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PHOTOPHOBIA; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA CONE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; STOP CODON; VISUAL ACUITY;

MURINAE;

EID: 0034284696     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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