✦ LIBER ✦

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B12-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation

✍ Scribed by Xue Yang; Osamu Sakamoto; Yoichi Matsubara; Shigeo Kure; Yoichi Suzuki; Yoko Aoki; Yasuyuki Suzuki; Nobuo Sakura; Masaki Takayanagi; Kazuie Iinuma; Toshihiro Ohura

Book ID: 116987513
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 809 KB
Volume: 82
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2004.05.002

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the MMAA gene in patients w

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

✍ Jordan P. Lerner-Ellis; C. Melissa Dobson; Timothy Wai; David Watkins; Jamie C. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 160 KB

Mutations in the MMAA gene on human chromosome 4q31.21 result in vitamin B12-responsive methylmalonic aciduria (cblA complementation group) due to deficiency in the synthesis of adenosylcobalamin. Genomic DNA from 37 cblA patients, diagnosed on the basis of cellular adenosylcobalamin synthesis, meth

Mutations in the MMAA Gene in Patients W

Mutations in the MMAA Gene in Patients With the cblA Disorder of Vitamin B12 Metabolism

✍ Jordan P. Lerner-Ellis; C. Melissa Dobson; Timothy Wai; David Watkins; Jamie C. 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB

The original article to which this Erratum refers was published in Human Mutation 24: 509-516 (2004). In the original article, the running header incorrectly read ''Mutations in the MMMA Gene,'' although it was corrected by the author during the proofing stage. The correct running header should read

Identification of three novel mutations

Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann–Pick disease type A and B

✍ Hiroyuki Ida; Owen M. Rennert; Kihei Maekawa; Yoshikatsu Eto 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 253 KB 👁 2 views