Associated Papers
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
Arredondo-Vega FX et al.
American Journal of Human Genetics, 1998
CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
Geley S et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
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