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Article

Unaffected patients with a homozygous absence of the SMN1 gene.

European journal of human genetics : EJHG - 1 Aug 2008

Jedrzejowska Maria, Borkowska Janina, Zimowski Janusz, Kostera-Pruszczyk Anna, Milewski Michał, Jurek Marta, Sielska Danuta, Kostyk Ewa, Nyka Walenty, Zaremba Jacek, Hausmanowa-Petrusewicz Irena

Abstract excerpt

In this report, we present three families in which we identified asymptomatic carriers of a homozygous absence of the SMN1 gene. In the first family, the bialleleic deletion was found in three of four siblings: two affected brothers (SMA type 3a and 3b) and a 25-years-old asymptomatic sister. All of them have four SMN2 copies. In the second family, four of six siblings are affected (three suffer from SMA2 and one...

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Source

Identifiers

PMID: 18337729
DOI: 10.1038/ejhg.2008.41

Genes

SMN2
SMN1

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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