✦ LIBER ✦

A novel SUCLA2 mutation in a Portuguese patient

✍ Scribed by Nogueira, Célia; Garcia, Paula; Diogo, Luísa; Valongo, Carla; Santorelli, Filippo M.; Vilarinho, Laura

Book ID: 122994426
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 81 KB
Volume: 13
Category: Article
ISSN: 1567-7249
DOI: 10.1016/j.mito.2013.07.043

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel homozygous mutation in SUCLA2 ge

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

✍ Costanza Lamperti; Mingyan Fang; Federica Invernizzi; Xuanzhu Liu; Hairong Wang; 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 473 KB

A novel splicing mutation causes analbum

A novel splicing mutation causes analbuminemia in a Portuguese boy

✍ Gianluca Caridi; Monica Dagnino; Marco Di Duca; Helena Pinto; Maria do Céu Espin 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 488 KB

Known and novel sarcoglycan gene mutatio

Known and novel sarcoglycan gene mutations in Portuguese patients

✍ M.R. dos Santos; E.M. Vieira; M.G. Ribeiro; M.M. Santos; R. Gomes; A. Guimaräcs 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 131 KB

A novel p.Leu213X mutation in GJB2 gene

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family

✍ Ana Cláudia Gonçalves; Joana Chora; Tiago D. Matos; Ricardo Santos; Assunção O’N 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 599 KB

Novel L2HGDH mutations in 21 patients wi

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin

✍ L. Vilarinho; M.L. Cardoso; P. Gaspar; C. Barbot; L. Azevedo; L. Diogo; M. Santo 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB

We studied 21 patients, from 18 families, with L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and subcortical leukoencephalopathy. Increased levels of L-2-hydrox

A Novel MECP2 Gene Mutation in a Tunisia

A Novel MECP2 Gene Mutation in a Tunisian Patient with Rett Syndrome

✍ Fendri-Kriaa, Nourhène; Abdelkafi, Zaineb; Rebeh, Imen Ben; Kamoun, Fatma; Triki 📂 Article 📅 2009 🏛 Mary Ann Liebert 🌐 English ⚖ 232 KB