✦ LIBER ✦

Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin

✍ Scribed by Mónica Fernández-Cancio; Manuel Nistal; Ricardo Gracia; M. Antonia Molina; Juan Antonio Tovar; Cristina Esteban; Antonio Carrascosa; Laura Audí

Book ID: 118761438
Publisher: American Society of Andrology
Year: 2004
Tongue: English
Weight: 260 KB
Volume: 25
Category: Article
ISSN: 1939-4640
DOI: 10.1002/j.1939-4640.2004.tb02808.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of mutations in the SRD5A

Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism

✍ Taninee Sahakitrungruang; Suttipong Wacharasindhu; Patra Yeetong; Thiti Snabboon 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 226 KB

A novel missense mutation of 5-alpha red

A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family

✍ Mithat Bahceci; Ahmet Resit Ersay; Alpaslan Tuzcu; Olaf Hiort; Annette Richter-U 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 175 KB

Novel compound heterozygous mutations in

Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia

✍ Felipe Vilchis; Evangelina Valdez; Luis Ramos; Rocio García; Rita Gómez; Bertha 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 298 KB

Novel compound heterozygous mutations in

Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration

✍ Yu-hu Zhang; Bei-sha Tang; Ai-ling Zhao; Kun Xia; Zhi-gao Long; Ji-feng Guo; Sha 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB

## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27‐year‐old male Chinese patient with atypical pantothenate kinase‐associated neurodegeneration (PKAN), formerly Hallervorden‐Spatz syndrome. Automated DNA sequence analyses revealed compound hete

The COL4A5 gene in Japanese Alport syndr

The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons

✍ Kawai, Shinichiro; Nomura, Shinsuke; Harano, Teruo; Harano, Keiko; Fukushima, Ta 📂 Article 📅 1996 🏛 Nature Publishing Group 🌐 English ⚖ 915 KB

A case of monilethrix caused by novel co

A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene

✍ M. Farooq; M. Ito; M. Naito; Y. Shimomura 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 429 KB