Mapping of a novel locus for achromatopsia (ACHM4) to 1 p and identification of a germline mutation in the α subunit of cone transducin (GNAT2)

Journal of Medical Genetics

Volumn 39, Issue 9, 2002, Pages 656-660

  Aligianis, I A ^a,b   Forshew, T ^a   Johnson, S ^c   Michaelides, M ^c   Johnson, C A ^a   Trembath, R C ^d   Hunt, D M ^c   Moore, A T ^c   Maher, E R ^a,b  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSDUCIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 1P; CLINICAL ARTICLE; COLOR BLINDNESS; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE SEGREGATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; GENOME ANALYSIS; HUMAN; MOLECULAR GENETICS; PHOTORECEPTOR; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; COLOR VISION DEFECTS; CONSANGUINITY; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GERM-LINE MUTATION; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; TRANSDUCIN;

EID: 0036714572     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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