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Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis

21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene. This 3.5 kb gene and a highly related CYP21P pseudogene reside on tandemly duplicated 30 kb segments of DNA in the class III HLA region, and the great majority of pathogenic...

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Bibliografiske detaljer
Main Authors: Lako, M., Ramsden, S., Campbell, R, Strachan, T.
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 1999
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734295/
https://ncbi.nlm.nih.gov/pubmed/10051010
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