Concepedia

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Robert C. Wilson, Saroj Nimkarn, M Dumić, Jihad S. Obeid, Maryam Razzghy Azar, Hossein Najmabadi, Fatemeh Saffari, Maria I. New

Molecular Genetics and Metabolism · 2007 · 138 citations · 50 references

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50

Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update

Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations

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Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Perrin C. White · Endocrine Reviews · 2000 · 876 citations

, , +13

Genotyping Steroid 21-Hydroxylase Deficiency: Hormonal Reference Data*

Maria I. New, F Lorenzen, Alan J. Lerner et al. · The Journal of Clinical Endocrinology & Metabolism · 1983 · 642 citations

, , +16

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Phyllis Speiser, Jakob Dupont, Dongjian Zhu et al. · Journal of Clinical Investigation · 1992 · 583 citations · Full text

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Structure of human steroid 21-hydroxylase genes.

Perrin C. White, Maria I. New, Bo Dupont · Proceedings of the National Academy of Sciences · 1986 · 578 citations · Full text

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