Učitavanje...
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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| Glavni autori: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1991
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1683080/ https://ncbi.nlm.nih.gov/pubmed/2035533 |
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