A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites
Open Access
- 25 May 2011
- journal article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 19 (10), 1045-1051
- https://doi.org/10.1038/ejhg.2011.85
Abstract
No abstract availableThis publication has 39 references indexed in Scilit:
- A Positive Modifier of Spinal Muscular Atrophy in the SMN2 GeneAmerican Journal of Human Genetics, 2009
- Differences in SMN1 allele frequencies among ethnic groups within North AmericaJournal of Medical Genetics, 2009
- Carrier screening for spinal muscular atrophyGenetics in Medicine, 2008
- Effect of Variation inCHI3L1on Serum YKL-40 Level, Risk of Asthma, and Lung FunctionThe New England Journal of Medicine, 2008
- CFTR mutations and reproductive outcomes in a population isolateHuman Genetics, 2007
- PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage AnalysesAmerican Journal of Human Genetics, 2007
- Robust quantification of the SMN gene copy number by real-time TaqMan PCRneurogenetics, 2007
- Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1Human Genetics, 2003
- Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutationsHuman Genetics, 2002
- Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous casesHuman Genetics, 2001