Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

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Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

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im Oktober 2018 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в жовтні 2018

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Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

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Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

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Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

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Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

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Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

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Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

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P1476

Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

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P2093

Chunxiu Gong

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Lijun Fan

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Yanning Song

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P2860

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Mutations in NR5A1 associated with ovarian insufficiency

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease

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1224

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scholarly article

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10.3389/FPHAR.2018.01224

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P478

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2018-10-30T00:00:00Z

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30425642

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P921

Farmakologi

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6218886

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