Citrin deficiency: Apparent founder mutations in the French Canadian population.

被引:0
|
作者
Dimmock, David
Maranda, Bruno
Laframboise, Rachel
Zhang, Qing
Wang, Jing
Truong, Cavatina
Schmitt, Eric
Scaglia, Fernando
Wong, Lee-Jun
机构
[1] Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USA
[2] CHUQ, Dept Pediat, Serv Genet Med, Dept Med, Quebec City, PQ, Canada
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:240 / 240
页数:1
相关论文
共 50 条
  • [1] Genotype and phenotype studies in autosomal dominant retinitis pigmentosa (adRP) of the French Canadian founder population.
    Coussa, Razek Georges
    Chakarova, Christina
    Ajlan, Radwan
    Kavalec, Conrad
    Khan, Aysha
    Lopez, Irma
    Ren, Huanan
    Waseem, Naushin
    Bhattacharya, Shomi S.
    Koenekoop, Robert K.
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
  • [2] Canadian population.
    Ng, E
    [J]. CANADIAN JOURNAL OF SOCIOLOGY-CAHIERS CANADIENS DE SOCIOLOGIE, 1997, 22 (04): : 540 - 543
  • [3] Assessment of French patients with LPL deficiency for French Canadian mutations
    Foubert, L
    DeGennes, JL
    Lagarde, JP
    Ehrenborg, E
    Raisonnier, A
    Girardet, JP
    Hayden, MR
    Benlian, P
    [J]. JOURNAL OF MEDICAL GENETICS, 1997, 34 (08) : 672 - 675
  • [4] Genomic and genealogical investigation of the French Canadian founder population structure
    Roy-Gagnon, Marie-Helene
    Moreau, Claudia
    Bherer, Claude
    St-Onge, Pascal
    Sinnett, Daniel
    Laprise, Catherine
    Vezina, Helene
    Labuda, Damian
    [J]. HUMAN GENETICS, 2011, 129 (05) : 521 - 531
  • [5] Screening open-angle glaucoma patients for TIGR/myocilin mutations in the French-Canadian population.
    Faucher, M
    Anctil, JL
    Côté, G
    Desmarchais, B
    Morissette, J
    Raymond, V
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2001, 42 (04) : S562 - S562
  • [6] Genomic and genealogical investigation of the French Canadian founder population structure
    Marie-Hélène Roy-Gagnon
    Claudia Moreau
    Claude Bherer
    Pascal St-Onge
    Daniel Sinnett
    Catherine Laprise
    Hélène Vézina
    Damian Labuda
    [J]. Human Genetics, 2011, 129 : 521 - 531
  • [7] Estimating founder contributions in an isolated population.
    Nolan, DK
    Cox, N
    Ober, C
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 227 - 227
  • [8] Citrin deficiency: Presentation, treatment and mutations in North America
    Dimmock, D. P.
    Maranda, B.
    Laframboise, R.
    Zhang, Q.
    Wang, J.
    Troung, C.
    Schmitt, E.
    Scaglia, F.
    Wong, L. J.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 85 - 85
  • [9] Founder Effect and New Mutations of SPG11 in French-Canadian Families
    Meijer, Inge
    St-Onge, Judith
    Bouchard, Jean-Pierre
    Rouleau, Guy
    Dupre, Nicolas
    [J]. NEUROLOGY, 2009, 72 (11) : A6 - A6
  • [10] Homozygous familial hypercholesterolaemia: Multiple founder mutations underlie phenotypic variation in the South African population.
    Callis, M
    Jansen, S
    Thiart, R
    Kotze, MJ
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 603 - 603