Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation-Reference-Cited by-同舟云学术

Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation

Published:2013-03 Issue:3 Volume:56 Page:159-162
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Piña-Aguilar Raul E.,Zaragoza-Arévalo Gerardo R.,Rau Isabella,Gal Andreas,Alcántara-Ortigoza Miguel A.,López-Martínez Mónica S.,Santillán-Hernández Yuritzi

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference20 articles.

1. Mucopolysaccharidosis type II (Hunter syndrome): clinical picture and treatment;Beck;Curr. Pharm. Biotechnol.,2011

2. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome);Martin;Pediatrics,2008

3. Mucopolysaccharidosis type II in females: case report and review of literature;Tuschl;Pediatr. Neurol.,2005

4. The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?;Neufeld;Am. J. Hum. Genet.,1977

5. A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: genotype and phenotype analysis;Sohn;Am. J. Med. Genet. A,2010

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