Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene

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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene

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наукова стаття, опублікована у 2018

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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene

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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene

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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene

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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene

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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene

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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene

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P1476

Aberrant Splicing Is the Patho ...... 314Lys Variant in CYP11A1 Gene

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P2093

Alexandre Janin

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Anne Lienhardt-Roussie

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Claire Goursaud

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Claudine Lecointre

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Delphine Mallet

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Gianni Russo

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Ingrid Plotton

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Rita Menassa

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Véronique Tardy-Guidollet

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Yves Morel

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P2860

Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

Splicing in action: assessing disease causing sequence changes

Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum

Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.

Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita.

Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)

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491

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scholarly article

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10.3389/FENDO.2018.00491

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English

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P50

Florence Roucher-Boulez

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2018-09-05T00:00:00Z

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30233493

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6134065

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