Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis-Reference-Cited by-同舟云学术

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Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis

Published:2018-04 Issue: Volume:167 Page:43-53
ISSN:0303-8467
Container-title:Clinical Neurology and Neurosurgery
language:en
Short-container-title:Clinical Neurology and Neurosurgery

Author:

Mahdieh Nejat,Mikaeeli Sahar,Tavasoli Ali Reza,Rezaei Zahra,Maleki Majid,Rabbani Bahareh

Funder

National Human Genome Research Institute

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Surgery

Reference76 articles.

1. Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis;Sandhoff;J. Neurosci.,2013

2. Biochemical consequences of mutations causing the GM2 gangliosidoses;Mahuran;Biochim. Biophys Acta,1999

3. Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus;Heng;Genomics,1993

4. The Metabolic and Molecular Bases of Inherited Disease;Scriver,1995

5. Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes;Proia;Proc. Natl. Acad. Sci. U. S. A.,1988

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