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Article

Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.

Molecular genetics and genomics : MGG - 1 Jul 2023

Maryami Fereshteh, Davoudi-Dehaghani Elham, Khalesi Nasrin, Rismani Elham, Rahimi Hamzeh, Talebi Saeed, Zeinali Sirous

Abstract excerpt

Whole-exome sequencing (WES) is an excellent method for the diagnosis of diseases of uncertain or heterogeneous genetic origin. However, it has limitations for detecting structural variations such as InDels, which the bioinformatics analyzers must be aware of. This study aimed at using WES to evaluate the genetic cause of the metabolic crisis in a 3-day-old neonate admitted to the neonatal intensive care unit...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37131081
DOI: 10.1007/s00438-023-02023-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.PMID 37131081Read ↗

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