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Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency

The aim of this work was to analyse C4 genotypes, C4 protein levels, phenotypes and genotypes in patients with the classical form of 21-hydroxylase deficiency. Fifty-four patients from 46 families (36 female, 18 male; mean age 10·8 years) with different clinical manifestations (31 salt-wasting; 23 s...

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Dettagli Bibliografici
Autori principali: Guerra-Junior, G, Grumach, A Sevciovic, de Lemos-Marini, S H Valente, Kirschfink, M, Neto, A Condino, de Araujo, M, De Mello, M Palandi
Natura: Artigo
Lingua:Inglês
Pubblicazione: Blackwell Science Inc 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2675248/
https://ncbi.nlm.nih.gov/pubmed/19137635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1365-2249.2008.03838.x
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