✦ LIBER ✦

A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1

✍ Scribed by Tomoko Lee; Yasuhiro Takeshima; Yo Okizuka; Kiyoshi Hamahira; Noriko Kusunoki; Hiroyuki Awano; Mariko Yagi; Norio Sakai; Masafumi Matsuo; Kazumoto Iijima

Book ID: 118273787
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 551 KB
Volume: 512
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2012.10.060

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Autosomal-dominant hypohidrotic ectoderm

Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation

✍ F Valcuende-Cavero; F Martinez; G Pérez-Pastor; S Oltra; I Ferrer; G Tomás-Cabed 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 610 KB

Follow-up of a child with congenital chl

Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation

✍ Markus-Johann Dechant; Satu Wedenoja; Pia Höglund; Susanne Prange-Schmidt; Klaus 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 144 KB

Report of a black South African child wi

Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation

✍ Liviu Feller; Neil H. Wood; Michelle D. Sluiter; Claudia Noffke; Erich J. Rauben 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 220 KB

A Japanese family with triple A syndrome

A Japanese family with triple A syndrome caused by a novel mutation in the ALADIN gene

✍ Yoshiko Furiya; Makito Hirano; Hirohide Asai; Takao Kiriyama; Hisao Shimizu; Kaz 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 64 KB

Ophthalmologic involvement in Japanese s

Ophthalmologic involvement in Japanese siblings with chorea-acanthocytosis caused by a novel chorein mutation

✍ Ogawa, Ikuko; Saigoh, Kazumasa; Hirano, Makito; Mtsui, Yoshiyuki; Sugioka, Koji; 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 593 KB

A bioinformatics framework for genotype–

A bioinformatics framework for genotype–phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations

✍ Christian Baumgartner; Gábor Mátyás; Beat Steinmann; Martin Eberle; Jörg I. Stei 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 391 KB