Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy)

P Vorwerk, C T Christoffersen, J Müller, H Vestergaard, O Pedersen, P De Meyts, Henrik Vestergaard

    16 Citations (Scopus)

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    Medicine & Life Sciences