Literature DB >> 8477267

A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).

S M Moskowitz1, P T Tieu, E F Neufeld.   

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Year:  1993        PMID： 8477267     DOI： 10.1002/humu.1380020113

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  7 in total

1.  Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.

Authors:  Felipe Vilchis; Luis Ramos; Susana Kofman-Alfaro; Juan Carlos Zenteno; Juan Pablo Méndez; Bertha Chávez
Journal:  J Hum Genet       Date:  2003-06-07       Impact factor: 3.172

2.  Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).

Authors:  Jui-Hung Chang; Shuan-Pei Lin; Shu-Chuan Lin; Kai-Li Tseng; Chia-Ling Li; Chih-Kuang Chuang; Guey-Jen Lee-Chen
Journal:  Hum Genet       Date:  2004-12-22       Impact factor: 4.132

Review 3.  When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

Authors:  L E Maquat
Journal:  RNA       Date:  1995-07       Impact factor: 4.942

4.  Enzyme replacement in a canine model of Hurler syndrome.

Authors:  R M Shull; E D Kakkis; M F McEntee; S A Kania; A J Jonas; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1994-12-20       Impact factor: 11.205

5.  Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.

Authors:  G Bach; S M Moskowitz; P T Tieu; A Matynia; E F Neufeld
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

6.  Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.

Authors:  E L Aronovich; D Pan; C B Whitley
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

7.  Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.

Authors:  S Laradi; T Tukel; M Erazo; J Shabbeer; L Chkioua; S Khedhiri; S Ferchichi; M Chaabouni; A Miled; R J Desnick
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.750
  7 in total

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