Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.

Hypohidrotic ectodermal dysplasia (EDA) has been localised to the q12-q13.1 region of the X chromosome by both physical and genetic mapping methods. Although linkage analysis using closely linked flanking markers can clarify the carrier status for many females at risk for the disorder, knowledge of...

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Hlavní autoři: Zonana, J, Jones, M, Clarke, A, Gault, J, Muller, B, Thomas, N S
Médium: Artigo
Jazyk:Inglês
Vydáno: 1994
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049800/
https://ncbi.nlm.nih.gov/pubmed/8071953
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