Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
- 1 January 2002
- journal article
- research article
- Published by Elsevier in Genetics in Medicine
- Vol. 4 (1) , 20-26
- https://doi.org/10.1097/00125817-200201000-00004
Abstract
No abstract availableKeywords
This publication has 51 references indexed in Scilit:
- Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosomeHuman Genetics, 2001
- The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophyHuman Molecular Genetics, 2000
- Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy NumberAmerican Journal of Human Genetics, 1997
- Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotypeNeuromuscular Disorders, 1997
- Clinical and molecular genetic features of congenital spinal muscular atrophyAnnals of Neurology, 1996
- Structure and Organization of the Human Survival Motor Neurone (SMN) GeneGenomics, 1996
- Identification and characterization of a spinal muscular atrophy-determining geneCell, 1995
- Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.Journal of Medical Genetics, 1978
- The Genetic Component in Child MortalityArchives of Disease in Childhood, 1970
- Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber anf neurotischer GrundlageArchiv Fur Psychiatrie Und Nervenkrankheiten, 1891