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Article

Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.

European journal of human genetics : EJHG - 1 Mar 2009

Stańczak Paweł, Witecka Joanna, Szydło Anna, Gutmajster Ewa, Lisik Małgorzata, Auguściak-Duma Aleksandra, Tarnowski Maciej, Czekaj Tomasz, Czekaj Hanna, Sieroń Aleksander L

Abstract excerpt

Atrial septal defect (ASD) is an incomplete septation of atria in human heart causing circulatory problems. Its frequency is estimated at one per 10 000. Actions of numerous genes have been linked to heart development. However, no single gene defect causing ASD has yet been identified. Incomplete heart septation similar to ASD was reported in transgenic mice with both inactive alleles of gene encoding mammalian...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18830233
DOI: 10.1038/ejhg.2008.175
PMCID: PMC2986167

Genes

TLL1

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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