✦ LIBER ✦

A founder mutation in thePEX6gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

✍ Scribed by Sebastien Levesque, Charles Morin, Simon-Pierre Guay, Josee Villeneuve, Pascale Marquis, Wing Yan Yik, Sarn Jiralerspong, Luigi Bouchard, Steven Steinberg, Joseph G Hacia, Ken Dewar, Nancy E Braverman

Book ID: 119896657
Publisher: BioMed Central
Year: 2012
Tongue: English
Weight: 696 KB
Volume: 13
Category: Article
ISSN: 1471-2350
DOI: 10.1186/1471-2350-13-72

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A founder mutation in the PEX6 gene is r

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

✍ Levesque, Sebastien (author);Morin, Charles (author);Guay, Simon Pierre (author) 📂 Article 📅 2012 🏛 BioMed Central 🌐 English ⚖ 696 KB

A founder mutation in BBS2 is responsibl

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

✍ AM Innes; KM Boycott; EG Puffenberger; D Redl; IM MacDonald; AE Chudley; C Beaul 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 802 KB

A Founder Mutation in the GK1 Gene Is Re

A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)

✍ Luba Kalaydjieva; Anna Perez-Lezaun; Dora Angelicheva; Suna Onengut; Danielle Dy 📂 Article 📅 1999 🏛 American Society of Human Genetics 🌐 English ⚖ 181 KB

Predominance of the T14484C Mutation in

Predominance of the T14484C Mutation in French-Canadian Families with Leber Hereditary Optic Neuropathy Is Due to a Founder Effect

✍ C. Macmillan; T.A. Johns; K. Fu; E.A. Shoubridge 📂 Article 📅 2000 🏛 American Society of Human Genetics 🌐 English ⚖ 65 KB

Mo-P6:391 Identification of a chromosome

Mo-P6:391 Identification of a chromosome 8P locus for coronary heart disease in the French Canadian founder population

✍ Engert, J.C.; Pare, G.; Lemire, M.; Faith, J.; Brisson, D.; Vohl, M.C.; Tremblay 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 304 KB

The c.242G>A mutation inLRTOMTgene is re

The c.242G>A mutation inLRTOMTgene is responsible for a high prevalence of deafness in the Moroccan population

✍ Majida Charif, Safaa Bounaceur, Omar Abidi, Halima Nahili… 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 353 KB