A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI

Author： Pousi B.   Heikkinen J.   Schroter J.   Pope M.   Myllyla R.  

Publisher： Elsevier

ISSN： 0027-5107

Source： Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Vol.432, Iss.1, 2000-02, pp. : 33-37

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