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Article

A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure.

Annals of Saudi medicine - 1 Jan 2000

Sarkhy Ahmed Al, Al-Sunaid Areej, Abdullah Ahmad, AlFadhel Majid, Eiyad Wafa

Abstract excerpt

We describe in this report the clinical, biochemical, and molecular features of a Saudi infant with hepatocerebral MDS secondary to a novel homozygous mutation in the MPV17 gene. An automated sequencing of the nuclear MPV17 gene was performed. The coding region (7 exons) of the MPV17 gene was amplified using an M13-tagged intronic primer and screened by direct sequencing of the PCR-amplified products (GenBank...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24894789
DOI: 10.5144/0256-4947.2014.175
PMCID: PMC6074855

Genes

MPV17

Variants

Provenance

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