211-600-9

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Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.

Taninee Sahakitrungruang et al.

Hormone research in paediatrics, 73(5), 349-354 (2010-04-15)

AVPR2 mutations cause most cases of nephrogenic diabetes insipidus (NDI); 211 AVPR2 mutations have been described, but only 7 are described causing partial NDI. Two unrelated Thai boys had polyuria and polydipsia in infancy but had normal electrolytes and serum

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