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Article

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

Clinical neurology and neurosurgery - 1 Apr 2018

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

Abstract excerpt

OBJECTIVES: Gangliosidosis is an inherited metabolic disorder causing neurodegeneration and motor regression. Preventive diagnosis is the first choice for the affected families due to lack of straightforward therapy. Genetic studies could confirm the diagnosis and help families for carrier screening and prenatal diagnosis. An update of HEXB gene variants concerning genotype, phenotype and in silico analysis are...

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Source

Identifiers

PMID: 29448188
DOI: 10.1016/j.clineuro.2018.02.011

Genes

HEXB
GLB1
HEXA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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