✦ LIBER ✦

Novel ALDH3A2 Heterozygous Mutations in a Japanese Family with Sjögren–Larsson Syndrome

✍ Scribed by Sakai, Kaori; Akiyama, Masashi; Watanabe, Tomoyuki; Sanayama, Kazunori; Sugita, Katsuo; Takahashi, Mari; Suehiro, Keisuke; Yorifuji, Kazuhiko; Shibaki, Akihiko; Shimizu, Hiroshi

Book ID: 110049526
Publisher: Nature Publishing Group
Year: 2006
Tongue: English
Weight: 139 KB
Volume: 126
Category: Article
ISSN: 0022-202X
DOI: 10.1038/sj.jid.5700453

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel and recurrent ALDH3A2 mutations in

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome

✍ Biagio Didona; Andrea Codispoti; Enrico Bertini; Wiliam B. Rizzo; Gael Carney; G 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 424 KB

Medical genetics: An Indian family with

Medical genetics: An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

✍ Kaori Sakai; Masashi Akiyama; Teruki Yanagi; Sheela Nampoothiri; Tony Mampilly; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 384 KB

Sjögren–Larsson syndrome: Novel mutation

Sjögren–Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort

✍ Catherine Sarret; Mélanie Rigal; Catherine Vaurs-Barrière; Imen Dorboz; Eléonore 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 475 KB

Sjögren-Larsson syndrome: Seven novel mu

Sjögren-Larsson syndrome: Seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2

✍ Gael Carney; Shu Wei; William B. Rizzo 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 319 KB

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disease caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH), an enzyme involved in lipid metabolism. We performed mutation analysis in probands or fetuses from 13 unrelated SLS families and identifi

Sjögren-Larsson syndrome: Diversity of m

Sjögren-Larsson syndrome: Diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2)

✍ William B. Rizzo; Gael Carney 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB

## Communicated by Jan P. Kraus Sjo ¨gren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disease is caused by mutations in the ALDH3A2 gene (also known as FALDH and ALDH10) on chromosome 17p11.2 th

First prenatal diagnosis by mutation ana

First prenatal diagnosis by mutation analysis in a family with Sjögren–Larsson syndrome

✍ A. Sillén; G. Holmgren; C. Wadelius 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 1 views

Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutation in the FALDH gene