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Kiyoshi Imaizumi

University of Nebraska Medical Center

5

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125

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P1148A in fibrillin-1 is not a mutation anymore.

1997 Nature Genetics
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Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.

1997 Human Mutation
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Currarino triad with aterminal deletion 7q35-qter

1996
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Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome

1995 Human Molecular Genetics
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Abnormal morphology of fibrillin microfibrils in fibroblast-cultures from patients with neonatal Marfan-Syndrome.

1995 American Journal of Pathology
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Citations (31)