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Mutations in the lysyl hydroxylase (LH) gene are responsible for LH deficiency in eight patients with Ehlers Danlos type VI

✍ Scribed by Walker, LC; Farmer, BT; Yeowell, HN


Book ID
119562624
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
175 KB
Volume
16
Category
Article
ISSN
0923-1811

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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