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A Novel Mutation in the Lysyl Hydroxylase 1 Gene Causes Decreased Lysyl Hydroxylase Activity in an Ehlers-Danlos VIA Patient

✍ Scribed by Walker, Linda C.; Overstreet, Mayra A.; Siddiqui, Adnan; De Paepe, Anne; Ceylaner, Gulay; Malfait, Fransiska; Symoens, Sofie; Atsawasuwan, Phimon; Yamauchi, Mitsuo; Ceylaner, Serdar; Bank, Ruud A.; Yeowell, Heather N.


Book ID
110733507
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
173 KB
Volume
124
Category
Article
ISSN
0022-202X

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A null-mutated lysyl hydroxylase gene in
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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