✦ LIBER ✦

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia

✍ Scribed by Setoodeh, Aria; Haghighi, Amirreza; Saleh-Gohari, Nasrollah; Ellard, Sian; Haghighi, Alireza

Book ID: 121887414
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 150 KB
Volume: 519
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2013.02.008

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of four SLC19A2 mutations

Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes

✍ Liu, Gang; Yang, Fan; Han, Bing; Liu, Junxiu; Nie, Guangjun 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 155 KB

The spectrum of mutations, including fou

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families

✍ Tal Raz; Valentina Labay; Dana Baron; Raymonde Szargel; Yefim Anbinder; Tim Barr 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 244 KB 👁 3 views

Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder with a triad of symptoms: megaloblastic anemia, deafness, and non-type 1 diabetes mellitus. Occasionally, cardiac abnormalities and abnormalities of the optic nerve and retina occur as well. Patients with TRMA often r

Mutations in SLC19A2 cause thiamine-resp

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

✍ Cohen, Nadine; Labay, Valentina; Raz, Tal; Baron, Dana; Mandel, Hanna; Williams, 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 384 KB

Thiamine-responsive megaloblastic anemia

Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygousSLC19A2mutations

✍ Pichler, Herbert; Zeitlhofer, Petra; Dworzak, Michael N.; Diakos, Christopher; H 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 273 KB

Novel mutation in theSLC19A2 gene in an

Novel mutation in theSLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome

✍ Lagarde, William H. ;Underwood, Louis E. ;Moats-Staats, Billie M. ;Calikoglu, Al 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB 👁 2 views

Recessive SLC19A2 mutations are a cause

Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia

✍ Charles Shaw-Smith; Sarah E Flanagan; Ann-Marie Patch; Juergen Grulich-Henn; Abd 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 491 KB