Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients
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This publication has 18 references indexed in Scilit:
- Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice GuidelineThe Journal of Clinical Endocrinology & Metabolism, 2010
- Lack of correlation between phenotype and genotype in untreated 21‐hydroxylase‐deficient Indonesian patientsClinical Endocrinology, 2009
- High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast BrazilArchives of Endocrinology and Metabolism, 2009
- Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiencyMolecular Genetics and Metabolism, 2008
- High variability in CYP21A2 mutated alleles in Spanish 21‐hydroxylase deficiency patients, six novel mutations and a founder effectClinical Endocrinology, 2006
- The Implication of De Novo 21-Hydroxylase Mutation in Clinical and Prenatal Molecular DiagnosesGenetic Testing, 2005
- Molecular Analysis of CYP-21 Mutations for Congenital Adrenal Hyperplasia in SingaporeHormone Research in Paediatrics, 2001
- CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the NetherlandsEuropean Journal of Human Genetics, 2000
- Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiencyJournal of Human Genetics, 1999
- Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.Proceedings of the National Academy of Sciences, 1986