Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity-Reference-Cited by-同舟云学术

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity

Published:2010-09-29 Issue:3 Volume:80 Page:273-280
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Coutinho MF,Encarnação M,Gomes R,da Silva Santos L,Martins S,Sirois-Gagnon D,Bargal R,Filocamo M,Raas-Rothschild A,Tappino B,Laprise C,Cury GK,Schwartz IV,Artigalás O,Prata MJ,Alves S

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01539.x/fullpdf

Reference17 articles.

1. Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.;Plante;Clin Genet,2008

2. When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.;Bargal;Mol Genet Metab,2006

3. Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.;Tappino;Hum Mutat,2009

4. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.;Encarnação;Clin Genet,2009

5. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta -subunits precursor gene.;Kudo;Am J Hum Genet,2006

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