✦ LIBER ✦

Molecular analysis of two Japanese cases of Denys-Drash syndrome

✍ Scribed by M. Tsuda; T. Sakiyama; T. Kitagawa; S. Watanabe; T. Watanabe; S. Takahashi; H. Kawaguchi; K. Ito

Publisher: Springer
Year: 1993
Tongue: English
Weight: 412 KB
Volume: 16
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf00714282

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

“Molecular genetic analysis of theWT1 ge

“Molecular genetic analysis of theWT1 gene in patients suspected to have the Denys-Drash syndrome”

✍ Coppes, Max. J. ;Clerizuzio, Carol L. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 86 KB

Mutation analysis of two Japanese patien

Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome

✍ Motohiro Akagi; Koji Inui; Shigeo Nakajima; Masaaki Shima; Toshinori Nishigaki; 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 54 KB

MRI in a case of Kearns-Sayre syndrome c

MRI in a case of Kearns-Sayre syndrome confirmed by molecular analysis

✍ G. Crisi; G. Ferrari; E. Merelli; P. Cocconcelli 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 547 KB

Molecular analysis of dihydropteridine r

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients

✍ Hiroyuki Ikeda; Y. Matsubara; Hitoshi Mikami; Shigeo Kure; Misao Owada; Tamara G 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 85 KB

Diagnosis of Japanese patients with HHH

Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X

✍ T. Miyamoto; N. Kanazawa; S. Kato; M. Kawakami; Y. Inoue; T. Kuhara; T. Inoue; K 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 62 KB

Molecular analysis of Japanese patients

Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation

✍ Yasukazu Yamada; Kiyokuni Miura; Toshiyuki Kumagai; Chiemi Hayakawa; Shuji Miyaz 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB

Rett syndrome is an X-linked dominant neurodevelopmental disorder that affects females almost exclusively. The recent identification of mutations of the methyl-CpG-binding protein 2 gene (MECP2) in patients with RTT, encouraged us to analyze the gene in 37 Japanese patients divided into classical RT