Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome-Reference-Cited by-同舟云学术

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Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome

Published:1996-02 Issue:2 Volume:97 Page:198-203
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Olsen Tord C.,Eiken Hans G.,Knappskog Per M.,Kase Bengt F.,Månsson Jan-Eric,Boman Helge,pold Jaran

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF02265265.pdf

Reference27 articles.

1. Annella T, Danele A, DiNatale P (1993) Heterogeneity of DNA and RNA in Hunter patients. Hum Genet 92:350–352

2. Ben Simon-Schiff E, Bach G, Hopwood JJ, Abeliovich D (1994) Mutation analysis of Jewish Hunter patients in Israel. Hum Mutat 4:263–270

3. Bondeson M-L, Dahl N, Malmgren H, Kleijer WJ, Tønnesen T, Carlberg B-M, Petterson U (1995) Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 4: 615–621

4. Bunge S, Steglich C, Zuther C, Beck M, Morris CP, Schwinger E, Schinzel A, Hopwood JJ, Gal A (1993) Iduronate-2-sulphatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 2:871–1875

5. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156–159

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review;Biology;2022-09-02

2. Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients;Clinical Genetics;2008-04-23

3. Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2006-04

4. Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II;Journal of Human Genetics;2005-08-30

5. Hunter disease in the Spanish population: Molecular analysis in 31 families;Journal of Inherited Metabolic Disease;1998-08

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