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Article

No common founder for C9orf72 expansion mutation in Sweden.

Journal of human genetics - 1 Feb 2017

Chiang Huei-Hsin, Forsell Charlotte, Lindström Anna-Karin, Lilius Lena, Thonberg Håkan, Nennesmo Inger, Graff Caroline

Abstract excerpt

Hexanucleotide expansion mutations in the chromosome 9 open reading frame 72 (C9orf72) gene is the most common genetic cause for frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). SNP haplotype analyses have suggested that all C9orf72 expansion mutations originate from a common founder. However, not all C9orf72 expansion mutation carriers have the same haplotype. To investigate if the C9orf72...

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Identifiers

PMID: 27557666
DOI: 10.1038/jhg.2016.108

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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