Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency

Mutations in 11β-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid excess (AME). AME is a form of low renin hypertension that is potentially fatal if untreated. Mutations in the HSD11B2 gene result either in seve...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Yau, Mabel, Haider, Shozeb, Khattab, Ahmed, Ling, Chen, Mathew, Mehr, Zaidi, Samir, Bloch, Madison, Patel, Monica, Ewert, Sinead, Abdullah, Wafa, Toygar, Aysenur, Mudryi, Vitalii, Al Badi, Maryam, Alzubdi, Mouch, Wilson, Robert C., Al Azkawi, Hanan Said, Ozdemir, Hatice Nur, Abu-Amer, Wahid, Hertecant, Jozef, Razzaghy-Azar, Maryam, Funder, John W., Al Senani, Aisha, Sun, Li, Kim, Se-Min, Yuen, Tony, Zaidi, Mone, New, Maria I.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2017
Assuntos:
PNAS Plus
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5748222/
https://ncbi.nlm.nih.gov/pubmed/29229831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1716621115
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