Mutations among Italian mucopolysaccharidosis type I patients-Reference-Cited by-同舟云学术

Mutations among Italian mucopolysaccharidosis type I patients

Published:1997-11 Issue:6 Volume:20 Page:803-806
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Gatti R.¹,DiNatale P.²,Villani G.R.D.²,Filocamo M.¹,Muller V.³,Guo X.-H.³,Nelson P.V.³,Scott H.S.³,Hopwood J. J.³

Affiliation:

1. ; Laboratorio di Diagnosi Pre e Postnatale delle Malattie Metaboliche; G. Gaslini Institute; Genova

2. ; Dipartimento di Biochimica e Biotecnologie Mediche; University of Naples Federico II; Naples Italy

3. ; Lysosomal Diseases Research Unit, Department of Chemical Pathology; Women's Children's Hospital; North Adelaide Australia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005323918923/fullpdf

Reference10 articles.

1. Immunoquantification and enzyme kinetics of α-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients;Ashton;Am J Hum Genet,1992

2. Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients;Bunge;Hum Mol Genet,1994

3. Prenatal diagnosis of mucopolysaccharidosis I: a special difficulty arising from an unusually low enzyme activity in mother's cells;Gatti;Prenat Diagn,1985

4. Human α-L-iduronidase: cDNA isolation and expression;Scott;Proc Natl Acad Sci USA,1991

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