Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Over the last two decades, we have extensively studied the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA analyses of the CYP21A2 gene on members of 4,857 families at risk for CAH—the largest cohort of CAH patients reported to date....

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Hlavní autoři: New, Maria I., Abraham, Moolamannil, Gonzalez, Brian, Dumic, Miroslav, Razzaghy-Azar, Maryam, Chitayat, David, Sun, Li, Zaidi, Mone, Wilson, Robert C., Yuen, Tony
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2013
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3574953/
https://ncbi.nlm.nih.gov/pubmed/23359698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1300057110
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