Author/Creator: Jakkula, E - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Jakkula, E

1. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. Issue 12 (18th December 2003)

Authors:: Jakkula, E; Lohiniva, J; Capone, A; Bonafe, L; Marti, M; Schuster, V; Giedion, A; Eich, G; Boltshauser, E; Ala-Kokko, L; Superti-Furga, A
Journal:: Journal of medical genetics
Issue:: Volume 40:Issue 12(2003)
Page Start:: 942
Record Type:: Journal Article
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2. Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. Issue 1 (16th January 2004)

Authors:: Jackson, G C; Barker, F S; Jakkula, E; Czarny-Ratajczak, M; Mäkitie, O; Cole, W G; Wright, M J; Smithson, S F; Suri, M; Rogala, P; Mortier, G R; Baldock, C; Wallace, A; Elles, R; Ala-Kokko, L; Briggs, M D
Journal:: Journal of medical genetics
Issue:: Volume 41:Issue 1(2004)
Page Start:: 52
Record Type:: Journal Article
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