A null-mutated lysyl hydroxylase gene in
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Jari Heikkinen; Birgitta Pousi; Michael Pope; Raili MyllylΓ€
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Article
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1999
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John Wiley and Sons
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English
β 216 KB
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A British patient with EDS VI had two novel null mutations in the lysyl hydroxylase gene, one nucleotide deletion in the acceptor splice site of intron 4 in one allele, and an insertion of a C nucleotide in exon 2 of the other allele. The abnormal alleles lead to a markedly decreased lysyl hydroxyla