Uniparental disomy as a mechanism for human genetic disease.

A female with cystic fibrosis and short stature was investigated for molecular or cytogenetic abnormalities that might explain the combined phenotype. Analysis with polymorphic DNA markers indicated that the father did not contribute alleles to the propositus for markers near the CF locus or for cen...

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Autori principali: Spence, J E, Perciaccante, R G, Greig, G M, Willard, H F, Ledbetter, D H, Hejtmancik, J F, Pollack, M S, O'Brien, W E, Beaudet, A L
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1988
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715272/
https://ncbi.nlm.nih.gov/pubmed/2893543
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