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A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy
by
Vorgerd, Matthias
,
van der Ven, Peter F.M.
,
Bruchertseifer, Vera
,
Löwe, Thomas
,
Kley, Rudolf A.
,
Schröder, Rolf
,
Lochmüller, Hanns
,
Himmel, Mirko
,
Koehler, Katrin
,
Fürst, Dieter O.
,
Huebner, Angela
Published in
American journal of human genetics
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Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
by
Kley, Rudolf A.
,
Hellenbroich, Yorck
,
van der Ven, Peter F. M.
,
Fürst, Dieter O.
,
Huebner, Angela
,
Bruchertseifer, Vera
,
Peters, Sören A.
,
Heyer, Christoph M.
,
Kirschner, Janbernd
,
Schröder, Rolf
,
Fischer, Dirk
,
Müller, Klaus
,
Tolksdorf, Karen
,
Eger, Katharina
,
Germing, Alfried
,
Brodherr, Turgut
,
Reum, Conny
,
Walter, Maggie C.
,
Lochmüller, Hanns
,
Ketelsen, Uwe-Peter
,
Vorgerd, Matthias
Published in
Brain (London, England : 1878)
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American Journal Of Human Genetics
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Brain
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The American Journal Of Human Genetics
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Biological And Medical Sciences
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Biopsy
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Contractile Proteins - Genetics
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Diseases Of Striated Muscles. Neuromuscular Diseases
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Filamins
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Humans
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Life Sciences & Biomedicine
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Medical Sciences
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Microfilament Proteins - Genetics
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Muscular Diseases - Pathology
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Mutation
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Neurology
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Pedigree
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