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

Authors :: Aligianis, I.A.
Forshew, T.
Johnson, S.
Michaelides, M.
Johnson, C.A.
Trembath, R.C.
Hunt, D.M.
Moore, A.T.
Maher, E.R.
Source :: Journal of Medical Genetics. September, 2002, Vol. 39 Issue 9, p656, 5 p.
Publication Year :: 2002
Abstract: Objective: To determine the molecular basis for achromatopsia using autozygosity mapping and positional candidate gene analysis. Design and methods: A large consanguineous Pakistani family containing six subjects with autosomal recessive [...]

Subjects :: Consanguinity -- Research -- Health aspects -- Genetic aspects
Familial diseases -- Research -- Genetic aspects
Dysplasia -- Genetic aspects -- Research
Color blindness -- Genetic aspects -- Research
Pakistanis -- Health aspects -- Research
Medical genetics -- Research -- Health aspects
Chromosome mapping -- Research -- Health aspects -- Genetic aspects
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