Unaffected patients with a homozygous absence of the SMN1 gene-Reference-Cited by-同舟云学术

Unaffected patients with a homozygous absence of the SMN1 gene

Published:2008-03-12 Issue:8 Volume:16 Page:930-934
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Jędrzejowska Maria,Borkowska Janina,Zimowski Janusz,Kostera-Pruszczyk Anna,Milewski Michał,Jurek Marta,Sielska Danuta,Kostyk Ewa,Nyka Walenty,Zaremba Jacek,Hausmanowa-Petrusewicz Irena

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg200841.pdf

Reference32 articles.

1. Dubowitz V : Disorders of Lower Motor Neurone: The Spinal Muscular Atrophies, In: Dubowitz V (ed): Muscle Disorders in Childhood. London: Saunders, 1995.

2. Cusin V, Clermont O, Gerard B, Chantereau D, Elion J : Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J Med Genet 2003; 40: e39.

3. Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B : Quantitative analysis of SMN1 and SMN2 based on real-time Light Cycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002; 70: 358–368.

4. Munsat T, Davies K : Report of international SMA consortium meeting. Neuromusc Disord 1992; 2: 423–428.

5. Zerres K, Rudnik-Schöneborn S, Forrest E et al: A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III): 569 patients. J Neurol Sci 1997; 146: 67–72.

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