Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations-Reference-Cited by-同舟云学术

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Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

Published:1996 Issue:1 Volume:7 Page:23-29
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Yamagishi Atsushi,Tomatsu Shunji,Fukuda Seiji,Uchiyama Atsushi,Shimozawa Nobuyuki,Suzuki Yasuyuki,Kondo Naomi,Sukegawa Kazuko,Orii Tadao

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. 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

2. Dideoxy sequencing method using denatured plasmid templates

3. Canadian Mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17?-hydroxylase deficiency

4. Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

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2. Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology;Frontiers in Molecular Biosciences;2022-01-24

3. Lysosomal storage diseases: mucopolysaccharidosis type I and II;Pediatrician (St. Petersburg);2021-10-13

4. Epidemiology of Mucopolysaccharidoses Update;Diagnostics;2021-02-10

5. Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations;Genetic Testing and Molecular Biomarkers;2019-08

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