Tytuł pozycji:
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy
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Tytuł:
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A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy
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Autorzy:
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Bader, IngridAff1, Aff2, Aff7, IDs13023022024217_cor1
Freilinger, M.
Landauer, F.
Waldmüller, S.
Mueller-Felber, W.
Rauscher, C.
Sperl, W.
Bittner, R. E.
Schmidt, W. M.
Mayr, J. A.
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Źródło:
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Orphanet Journal of Rare Diseases. 17(1)
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