Carrier incidence for spinal muscular atrophy in southern Chinese
- 1 September 2004
- journal article
- research article
- Published by Springer Science and Business Media LLC in Zeitschrift für Neurologie
- Vol. 251 (9), 1089-1093
- https://doi.org/10.1007/s00415-004-0487-z
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- SMN dosage analysis and risk assessment for spinal muscular atrophy.American Journal of Human Genetics, 2002
- Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular AtrophyAmerican Journal of Human Genetics, 2002
- Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2Genetics in Medicine, 2002
- An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)Human Mutation, 2000
- SMN oligomerization defect correlates with spinal muscular atrophy severityNature Genetics, 1998
- Sequence of a 131-kb Region of 5q13.1 Containing the Spinal Muscular Atrophy Candidate Genes SMN and NAIPGenomics, 1998
- Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy NumberAmerican Journal of Human Genetics, 1997
- Real time quantitative PCR.Genome Research, 1996
- PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophyThe Lancet, 1995
- International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany)Neuromuscular Disorders, 1992