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Article

A heterozygous mutation in GOT1 is associated with familial macro-aspartate aminotransferase.

Journal of hepatology - 1 Nov 2017

Kulecka Maria, Wierzbicka Aldona, Paziewska Agnieszka, Mikula Michal, Habior Andrzej, Janczyk Wojciech, Dabrowska Michalina, Karczmarski Jakub, Lazniewski Michal, Ginalski Krzysztof, Czlonkowska Anna, Socha Piotr, Ostrowski Jerzy

Abstract excerpt

BACKGROUND & AIMS: Macro-aspartate aminotransferase (macro-AST) manifests as a persistent elevation of AST levels, because of association of the protein with immunoglobulins in the circulation. Macro-AST is a rare, benign condition without a previously confirmed genetic basis. METHODS: Whole exome sequencing (WES)-based screening was performed on 32 participants with suspected familial macro-AST, while validation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28716744
DOI: 10.1016/j.jhep.2017.07.003

Genes

GOT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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