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

Design and methods: A large consanguineous Pakistani family containing six subjects with autosomal recessive complete achromatopsia was ascertained. After excluding linkage to the two known achromatopsia genes (CNGA3 and CNGB3), a genome wide linkage screen was undertaken. Results: Significant linka...

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Autors principals: Aligianis, I, Forshew, T, Johnson, S, Michaelides, M, Johnson, C, Trembath, R, Hunt, D, Moore, A, Maher, E
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2002
Matèries:
Short Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735242/
https://ncbi.nlm.nih.gov/pubmed/12205108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.9.656
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