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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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Bibliografski detalji
Glavni autori: Kenna, P., Mansergh, F., Millington-Ward, S., Erven, A., Kumar-Singh, R., Brennan, R., Farrar, G, Humphries, P.
Format: Artigo
Jezik:Inglês
Izdano: 1997
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1722127/
https://ncbi.nlm.nih.gov/pubmed/9135384
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