Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America-Reference-Cited by-同舟云学术

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

Published:2011-05 Issue:5 Volume:21 Page:328-337
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Vernengo Luis,Oliveira Jorge,Krahn Martin,Vieira Emilia,Santos Rosário,Carrasco Luisa,Negrão Luís,Panuncio Ana,Leturcq France,Labelle Veronique,Bronze-da-Rocha Elsa,Mesa Rosario,Pizzarossa Carlos,Lévy Nicolas,Rodriguez Maria-Mirta

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference30 articles.

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3. Dysferlin is a plasma membrane protein and is expressed in early human development;Anderson;Hum Mol Genet,1999

4. Intracellular accumulations and reduced sarcolemmal expression of dysferlin in limb girdle muscular dystrophies;Piccolo;Ann Neurol,2000

5. Defective membrane repair in dysferlin-deficient muscular dystrophy;Bansal;Nature,2003

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3. A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy;Neuropathology;2018-05-25

4. Progress and challenges in diagnosis of dysferlinopathy;Muscle & Nerve;2016-10-18

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