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Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness

AIMS/BACKGROUND—To characterise clinically a large kindred segregating retinitis pigmentosa and sensorineural hearing impairment in an autosomal dominant pattern and perform genetic linkage studies in this family. Extensive linkage analysis in this family had previously excluded the majority of loci...

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Detalhes bibliográficos
Main Authors: Kenna, P., Mansergh, F., Millington-Ward, S., Erven, A., Kumar-Singh, R., Brennan, R., Farrar, G, Humphries, P.
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1722127/
https://ncbi.nlm.nih.gov/pubmed/9135384
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