Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency

Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency

Item
http://www.wikidata.org/entity/Q28138689
A49T, V89L and TA repeat polymorphisms of steroid 5alpha-reductase type II and breast cancer risk in Japanese women.A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene.Molecular Basis of Steroid Action in the Prostate.Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center.Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.Diagnosis of 5alpha-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation.Phenotype, genotype and gender identity in a large cohort of patients from India with 5α-reductase 2 deficiency.
P2860

Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency

Item
http://www.wikidata.org/entity/Q28138689
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2000 nî lūn-bûn
@nan
2000 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մարտին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Identification of missense mut ...... 5alpha-reductase 2 deficiency
@ast
Identification of missense mut ...... 5alpha-reductase 2 deficiency
@en
Identification of missense mut ...... 5alpha-reductase 2 deficiency
@nl
type
label
Identification of missense mut ...... 5alpha-reductase 2 deficiency
@ast
Identification of missense mut ...... 5alpha-reductase 2 deficiency
@en
Identification of missense mut ...... 5alpha-reductase 2 deficiency
@nl
prefLabel
Identification of missense mut ...... 5alpha-reductase 2 deficiency
@ast
Identification of missense mut ...... 5alpha-reductase 2 deficiency
@en
Identification of missense mut ...... 5alpha-reductase 2 deficiency
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Identification of missense mut ...... 5alpha-reductase 2 deficiency
@en
P2093
P2860
P304
P31
P356
10.1046/J.1365-2265.2000.00941.X
P407
P433
P478
P577
P698