Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.

In a fragile X family referred for prenatal diagnosis, the female fetus did not inherit the full fragile X mutation from her mother, but an unexpected expansion within the normal range of CGG repeats from 29 to 39 was observed in the paternal X chromosome. Also, a rare recombination between DXS548 a...

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Hlavní autoři: Macpherson, J N, Curtis, G, Crolla, J A, Dennis, N, Migeon, B, Grewal, P K, Hirst, M C, Davies, K E, Jacobs, P A
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050327/
https://ncbi.nlm.nih.gov/pubmed/7783179
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