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A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI

✍ Scribed by Hyland, James; Ala-Kokko, Leena; Royce, Peter; Steinmann, Beat; Kivirikko, Kari I.; Myllylä, Raili


Book ID
109918528
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
459 KB
Volume
2
Category
Article
ISSN
1061-4036

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A null-mutated lysyl hydroxylase gene in
✍ Jari Heikkinen; Birgitta Pousi; Michael Pope; Raili Myllylä 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 216 KB 👁 2 views

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