Genetic Diagnosis of Werdnig-Hoffmann Disease: A Problem for Application to Prenatal Diagnosis.
Author:
Affiliation:
1. Department of Pediatrics, Nippon Medical School
2. Department of Biochemistry and Molecular Biology, Nippon Medical School
3. Department of Pediatrics, Facutly of Medicine, the University of Tokyo
Publisher
Medical Association of Nippon Medical School
Subject
General Medicine
Link
http://www.jstage.jst.go.jp/article/jnms/70/1/70_1_45/_pdf
Reference9 articles.
1. Natural History in Proximal Spinal Muscular Atrophy
2. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3
3. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals
4. Identification and characterization of a spinal muscular atrophy-determining gene
5. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
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