Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number
- 1 December 1998
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 63 (6) , 1712-1723
- https://doi.org/10.1086/302160
Abstract
No abstract availableKeywords
This publication has 56 references indexed in Scilit:
- The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]Human Molecular Genetics, 1998
- SMN oligomerization defect correlates with spinal muscular atrophy severityNature Genetics, 1998
- Correlation between severity and SMN protein level in spinal muscular atrophyNature Genetics, 1997
- Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy NumberAmerican Journal of Human Genetics, 1997
- An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining geneHuman Molecular Genetics, 1996
- Structure and Organization of the Human Survival Motor Neurone (SMN) GeneGenomics, 1996
- A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patientsNature Genetics, 1995
- Identification and characterization of a spinal muscular atrophy-determining geneCell, 1995
- A YAC Contig of the Region Containing the Spinal Muscular Atrophy Gene (SMA): Identification of an Unstable RegionGenomics, 1994
- A Multicopy Dinucleotide Marker That Maps Close to the Spinal Muscular Atrophy GeneGenomics, 1994