(PDF) A Novel p.Arg179Ser (C.537 G>T) Heterozygotes

A Novel p.Arg179Ser (C.537 G>T) Heterozygotes Mutation on Exon 3 of SRD5A2 Gene Accompany With Biotidinase Deficiency in Case With Ambiguous External Genitalia

Konuralp Tıp Dergisi

doi 10.18521/ktd.341688

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September 22, 2017

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Konuralp Medical Journal

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Amanote Research

A Novel p.Arg179Ser (C.537 G>T) Heterozygotes Mutation on Exon 3 of SRD5A2 Gene Accompany With Biotidinase Deficiency in Case With Ambiguous External Genitalia

Konuralp Tıp Dergisi

doi 10.18521/ktd.341688

Full Text

Abstract

Date

Authors

Publisher

Related search

Intermediate McAd Deficiency Associated With a Novel Mutation of theACADMGene: C.1052C>T

Molecular Epidemiology of C9 Deficiency Heterozygotes With an Arg95Stop Mutation of the C9 Gene in Japan

Inconsistent Expression of Both Centromeres of a Dicentric Y Chromosome in a Child With Ambiguous External Genitalia.

1034 a Hypotonic Infant With Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency; Homozygous Mutation of C.1015T>G in MTFHR Gene

A Case of Allgrove Syndrome With a Novel IVS7 +1 G>A Mutation of the AAAS Gene

Ambiguous Genitalia

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient With Female External Genitalia

Compound Heterozygosity of a Novel Exon 3 Frameshift (p.R357P Fs*24) Mutation and Y486D Mutation in Exon 5 of the UGT1A1 Gene in a Thai Infant With Crigler-Najjar Syndrome Type 2

A Nonsense Mutation in the 3-Hydroxy-3-Methylglutaryl-CoA Lyase Gene Produces Exon Skipping in Two Patients of Different Origin With 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency