Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification-Reference-Cited by-同舟云学术

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

Published:2006-07-22 Issue:4 Volume:7 Page:269-276
ISSN:1364-6745
Container-title:Neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Scarciolla Oronzo,Stuppia Liborio,De Angelis Maria Vittoria,Murru Stefania,Palka Chiara,Giuliani Rossella,Pace Marta,Di Muzio Antonio,Torrente Isabella,Morella Annunziata,Grammatico Paola,Giacanelli Manlio,Rosatelli Maria Cristina,Uncini Antonino,Dallapiccola Bruno

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-006-0051-3.pdf

Reference23 articles.

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4. Cusco I, Barcelo MJ, Rojas-Garcia R, Illa I, Gamez J, Cervera C, Pou A, Izquierdo G, Baiget M, Tizzano EF (2006) SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J Neurol 253:21–55

5. Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B (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 atrophy. Am J Hum Genet 70(2):358–368

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