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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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Main Authors: Kenna, P., Mansergh, F., Millington-Ward, S., Erven, A., Kumar-Singh, R., Brennan, R., Farrar, G, Humphries, P.
格式: Artigo
語言:Inglês
出版: 1997
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1722127/
https://ncbi.nlm.nih.gov/pubmed/9135384
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