Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the α-subunit of cone specific transducin (GNAT2)

Aim: To describe the phenotype of a three generation consanguineous Pakistani family containing six individuals with autosomal recessive cone dystrophy caused by mutation in GNAT2. Methods: Five of the six affected individuals underwent an ophthalmological examination, electrodiagnostic testing, fun...

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Autors principals: Michaelides, M, Aligianis, I A, Holder, G E, Simunovic, M, Mollon, J D, Maher, E R, Hunt, D M, Moore, A T
Format: Artigo
Idioma:Inglês
Publicat: Copyright 2003 British Journal of Ophthalmology 2003
Matèries:
Clinical Science - Scientific Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1771876/
https://ncbi.nlm.nih.gov/pubmed/14609822
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