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A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

Linkage analysis in a multigenerational family with autosomal dominant hearing loss yielded a chromosomal localisation of the underlying genetic defect in the DFNA20/26 locus at 17q25-qter. The 6-cM critical region harboured the γ-1-actin (ACTG1) gene, which was considered an attractive candidate ge...

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Autors principals: van Wijk, E, Krieger, E, Kemperman, M, De Leenheer, E M R, Huygen, P, Cremers, C, Cremers, F, Kremer, H
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2003
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735337/
https://ncbi.nlm.nih.gov/pubmed/14684684
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.12.879
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