Determinação de mutações e polimorfismos no gene CYP11B1 humano em individuos com deficiencia de 11 Beta-hidroxilase / c Junia Yara Penachioni

AUTOR(ES)

Júnia Yara Penachioni

DATA DE PUBLICAÇÃO

2001

RESUMO

Congenital adrenal hyperplasia (CAR) is one of the most common inherited endocrine diseases. More than 90% of cases are due to steroid 21-0H deficiency, where as 5-8% are caused by 11 beta -hydroxylase (11 beta -0H) deficiency, the inherited inability to synthesize cortisol (failure to convert 11-deoxycortisolto cortisol). ... Note: The complete abstract is available with the full electronic digital thesis or dissertations

ASSUNTO(S)

hiperplasia mutação (biologia)

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