Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency.

Lamandé, S R; Bateman, J F; Hutchison, W; McKinlay Gardner, R J; Bower, S P; Byrne, E; Dahl, H H

Lamandé, S R; Bateman, J F; Hutchison, W; McKinlay Gardner, R J; Bower, S P; Byrne, E; Dahl, H H.

Affiliation

Lamandé SR; Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne and Murdoch Institute, Royal Children's Hospital, Parkville 3052, Australia. lamandes@cryptic.rch.unimelb.edu.au

Hum Mol Genet ; 7(6): 981-9, 1998 Jun.

Article de En | MEDLINE | ID: mdl-9580662

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Collection: 01-internacional Base de données: MEDLINE Sujet principal: ARN messager / Collagène / Mutation ponctuelle / Dystrophies musculaires Type d'étude: Etiology_studies Limites: Humans Langue: En Journal: Hum Mol Genet Sujet du journal: BIOLOGIA MOLECULAR / GENETICA MEDICA Année: 1998 Type de document: Article Pays d'affiliation: Australie Pays de publication: Royaume-Uni

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