Lower Incidence of Deletions in the Survival of Motor Neuron Gene and the Neuronal Apoptosis Inhibitory Protein Gene in Children with Spinal Muscular Atrophy from Serbia
Author:
Affiliation:
1. Laboratory of Medical Genetics, Mother and Child Health Care Institute
2. Department of Neurology, Mother and Child Health Care Institute
Publisher
Tohoku University Medical Press
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Link
http://www.jstage.jst.go.jp/article/tjem/225/3/225_3_153/_pdf
Reference24 articles.
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2. Structure and Organization of the Human Survival Motor Neurone (SMN) Gene
3. Burlet, P., Burglen, L., Clermont, O., Lefebvre, S., Viollet, L., Munnich, A. & Melki, J. (1996) Large scale deletions of the 5q13 region are specific to Werdnig-Hoffman disease. J. Med. Genet., 33, 281-283.
4. Campbell, L., Potter, A., Ignatius, J., Dubowitz, V. & Davies, K. (1997) Genomic variation and gene conversion in spinal muscular atrophy: implication for disease process and clinical phenotype. Am. J. Hum. Genet., 61, 40-50.
5. DiDonato, C.J., Ingraham, S.E., Mendell, J.R., Prior, T.W., Lenard, S., Moxley, R.T. 3rd, Florence, J. & Burghes, A.H. (1997) Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity? Ann. Neurol., 41, 230-237.
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