La mucopolysaccharidose de type I: identification des mutations du gène alpha-L-iduronidase dans des familles tunisiennes-Reference-Cited by-同舟云学术

La mucopolysaccharidose de type I: identification des mutations du gène alpha-L-iduronidase dans des familles tunisiennes

Published:2007-10 Issue:10 Volume:14 Page:1183-1189
ISSN:0929-693X
Container-title:Archives de Pédiatrie
language:fr
Short-container-title:Archives de Pédiatrie

Author:

Chkioua L.,Khedhiri S.,Jaidane Z.,Ferchichi S.,Habib S.,Froissart R.,Bonnet V.,Chaabouni M.,Dandana A.,Jrad T.,Limem H.,Maire I.,Abdelhedi M.,Laradi S.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference19 articles.

1. The mucopolysaccharidoses;Neufeld,2001

2. Structure and sequence of the human alpha-L-iduronidase gene;Scott;Genomics,1992

3. Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families;Laradi;J. Inherit. Metab. Dis.,2005

4. Identification and characterization of 13 new mutations in mucopolysaccharidosis type I;Matte;Mol. Genet. Metab.,2003

5. Alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype;Scott;Hum. Mutat.,1992

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