Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment.

X-linked hypohidrotic ectodermal dysplasia (EDA) has been localized to the Xq12-q13.1 region. A panel of genomic DNA samples from 80 unrelated males with EDA has been screened for deletions at seven genetic loci within the Xq12-13 region. A single individual was identified with a deletion at the DXS...

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Dettagli Bibliografici
Autori principali: Zonana, J, Gault, J, Davies, K J, Jones, M, Browne, D, Litt, M, Brockdorff, N, Rastan, S, Clarke, A, Thomas, N S
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1993
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682116/
https://ncbi.nlm.nih.gov/pubmed/8434608
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