Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.

Menkes syndrome is a rare X-linked recessive disorder characterized by an inability to metabolize copper. A female patient with both this disease and an X; autosome translocation with karyotype 46,X,t(X;2)(q13;q32.2) has previously been described. The translocation breakpoint in Xq13 coincides with...

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Bibliografiska uppgifter
Huvudupphovsmän: Verga, V, Hall, B K, Wang, S R, Johnson, S, Higgins, J V, Glover, T W
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1991
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683080/
https://ncbi.nlm.nih.gov/pubmed/2035533
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