Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis.

We describe a family affected by X linked severe combined immunodeficiency (SCIDX1) in which genetic prediction of carrier status was made using X chromosome inactivation studies together with limited genetic linkage analysis. Linkage studies in this family showed a confusing pattern of inheritance...

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Hlavní autoři: Lester, T, de Alwis, M, Clark, P A, Jones, A M, Katz, F, Levinsky, R J, Kinnon, C
Médium: Artigo
Jazyk:Inglês
Vydáno: 1994
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050084/
https://ncbi.nlm.nih.gov/pubmed/7815443
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