Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Lampe, A K; Zou, Y; Sudano, D; O'Brien, K K; Hicks, D; Laval, S H; Charlton, R; Jimenez-Mallebrera, C; Zhang, R-Z; Finkel, R S; Tennekoon, G; Schreiber, G; van der Knaap, M S; Marks, H; Straub, V; Flanigan, K M; Chu, M-L; Muntoni, F; Bushby, K M D; Bönnemann, C G

Lampe, A K; Zou, Y; Sudano, D; O'Brien, K K; Hicks, D; Laval, S H; Charlton, R; Jimenez-Mallebrera, C; Zhang, R-Z; Finkel, R S; Tennekoon, G; Schreiber, G; van der Knaap, M S; Marks, H; Straub, V; Flanigan, K M; Chu, M-L; Muntoni, F; Bushby, K M D; Bönnemann, C G.

Affiliation

Lampe AK; Division of Neurology, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA. anneklampe@doctors.org.uk

Hum Mutat ; 29(6): 809-22, 2008 Jun.

Article in En | MEDLINE | ID: mdl-18366090

Subject(s)

Collagen Type VI/genetics; Muscular Dystrophies/genetics; Mutation; RNA Splicing; Cells, Cultured; Collagen Type VI/metabolism; DNA Mutational Analysis; Exons; Fibroblasts/metabolism; Gene Deletion; Humans; Muscle, Skeletal/metabolism; Severity of Illness Index; Skin/cytology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Splicing / Collagen Type VI / Muscular Dystrophies / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2008 Type: Article Affiliation country: United States

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