CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.

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CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.

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2017 nî lūn-bûn

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2017年学术文章

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CYP21A2 genetic profile in 14 ...... lasia: a diagnostic challenge.

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CYP21A2 genetic profile in 14 ...... lasia: a diagnostic challenge.

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CYP21A2 genetic profile in 14 ...... lasia: a diagnostic challenge.

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CYP21A2 genetic profile in 14 ...... lasia: a diagnostic challenge.

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CYP21A2 genetic profile in 14 ...... lasia: a diagnostic challenge.

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CYP21A2 genetic profile in 14 ...... lasia: a diagnostic challenge.

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P1476

CYP21A2 genetic profile in 14 ...... plasia: a diagnostic challenge

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P2093

Ahmed Khattab

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Alaa Afif

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Amany Ibrahim

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Balsam Sherif

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Fatma Elmougy

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Ghada Thabet

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Heba Baz

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Hend Soliman

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Marwa Elsharkawy

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Mona Abdullatif

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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

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis

Mutations in steroid 21-hydroxylase (CYP21)

Structure of human steroid 21-hydroxylase genes

Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.

Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms

Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively

Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.

P304

11-20

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scholarly article

P356

10.1111/NYAS.13540

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P433

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P478

1415

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P50

Sahar A Sharaf

Hazem S Abou-Youssef

P577

2017-12-21T00:00:00Z

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P698

29266270

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