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In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.

A simple, rapid, non-radioactive method for detecting homozygous deletions/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt lo...

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Autors principals: Rumsby, G, Honour, J W
Format: Artigo
Idioma:Inglês
Publicat: 1990
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017256/
https://ncbi.nlm.nih.gov/pubmed/2277381
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