Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree.

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Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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name

Identification of a novel comp ...... iciency in a Chinese pedigree.

@en

Identification of a novel comp ...... iciency in a Chinese pedigree.

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Item

label

Identification of a novel comp ...... iciency in a Chinese pedigree.

@en

Identification of a novel comp ...... iciency in a Chinese pedigree.

@nl

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Identification of a novel comp ...... iciency in a Chinese pedigree.

@en

Identification of a novel comp ...... iciency in a Chinese pedigree.

@nl

P1476

Identification of a novel comp ...... iciency in a Chinese pedigree.

@en

P2093

Chao Xu

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Haiqing Zhang

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Jia Liu

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Jin Xu

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Li Fang

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Qingbo Guan

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Xiujuan Zhang

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P2860

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Structure of human steroid 21-hydroxylase genes

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency

Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia

Congenital adrenal hyperplasias.

Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

P304

4265-4272

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scholarly article

P356

10.3892/MMR.2018.8391

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P433

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P478

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P577

2018-01-08T00:00:00Z

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29328376

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P932

5802198

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