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Article

Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2006

Barceló María Jesús, Alias Laura, Caselles Lídia, Robles Yolanda, Baiget Montserrat, Tizzano Eduardo F

Abstract excerpt

PURPOSE: We present the results of carrier studies in 33 relatives of the paternal branch of a spinal muscular atrophy patient with homozygous absence of the SMN1 gene. METHODS AND RESULTS: Once linkage and quantitative analyses were performed, a number of first-, second- and third-degree relativ...

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Source

Identifiers

PMID: 16617248
DOI: 10.1097/01.gim.0000214319.99550.10

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16617248-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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