A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset sandhoff disease-Reference-Cited by-同舟云学术

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A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset sandhoff disease

Published:1995 Issue:3 Volume:6 Page:260-262
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Gomez-Lira Macarena,Perusi Chiara,Brutti Nadia,Farnetani M. Angela,Margollicci M. Antonietta,Rizzuto Nicolò,Pignatti Pier Franco,Salviati Alessandro

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference8 articles.

1. Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease

2. Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase.

3. Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations

4. Juvenile spinal muscular atrophy: A new hexosaminidase deficiency phenotype

Cited by 6 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. P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease;Metabolic Brain Disease;2022-10-03

2. Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis;Clinical Neurology and Neurosurgery;2018-04

3. Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles;neurogenetics;2008-08-29

4. 17. Naturally occurring mutations in GM2 gangliosidosis: A compendium;Tay-Sachs Disease;2001

5. Biochemical consequences of mutations causing the GM2 gangliosidoses;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;1999-10

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