Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene-Reference-Cited by-同舟云学术

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Published:2008-12-03 Issue:1 Volume:125 Page:29-39
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Alías Laura,Bernal Sara,Fuentes-Prior Pablo,Barceló María Jesus,Also Eva,Martínez-Hernández Rebeca,Rodríguez-Alvarez Francisco J.,Martín Yolanda,Aller Elena,Grau Elena,Peciña Ana,Antiñolo Guillermo,Galán Enrique,Rosa Alberto L.,Fernández-Burriel Miguel,Borrego Salud,Millán José M.,Hernández-Chico Concepción,Baiget Montserrat,Tizzano Eduardo F.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-008-0598-1.pdf

Reference53 articles.

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2. Bingham PM, Shen N, Rennert H, Rorke LB, Black AW, Marin-Padilla MM, Nordgren RE (1997) Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene. Neurology 49:848–851

3. Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G (1996) Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Human Mol Genet 5:1971–1976

4. Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B (2008) Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. Hum Genet 123:141–153

5. Bühler D, Raker V, Lührmann R, Fischer U (1999) Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy. Hum Mol Genet 8:2351–2357

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