Publications:

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.

Frontiers In Endocrinology

Arriba, María M; Ezquieta, Begoña B

Publication Date: 2022

Variant appearance in text: PC: H282N

PubMed Link: 35422767

Variant Present in the following documents:

• fendo-13-834549.pdf

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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

European Journal Of Human Genetics : Ejhg

Baumgartner-Parzer, Sabina S; Witsch-Baumgartner, Martina M; Hoeppner, Wolfgang W

Publication Date: 2020-10

Variant appearance in text: PC: H282N

PubMed Link: 32616876

Variant Present in the following documents:

• 41431_2020_Article_653.pdf

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

Molecular Medicine Reports

Liu, Jia J; Zhang, Xiujuan X; Zhang, Haiqing H; Fang, Li L; Xu, Jin J; Guan, Qingbo Q; Xu, Chao C

Publication Date: 2018-03

Variant appearance in text: PC: H282N

PubMed Link: 29328376

Variant Present in the following documents:

• mmr-17-03-4265.pdf

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Disulfide loop cleavage of Legionella pneumophila PlaA boosts lysophospholipase A activity.

Scientific Reports

Lang, Christina C; Hiller, Miriam M; Flieger, Antje A

Publication Date: 2017-11-24

Variant appearance in text: PC: H282N

PubMed Link: 29176577

Variant Present in the following documents:

• Main text

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