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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

✍ Scribed by Birgitta Pousi; Jari Heikkinen; Jukka Schröter; Michael Pope; Raili Myllylä

Book ID
117987895
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
195 KB
Volume
432
Category
Article
ISSN
1383-5726

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We report the first deletion mutation and the first splicing defect in the lysyl hydroxylase gene in a compound heterozygote patient with Ehlers-Danlos syndrome type VI with markedly reduced lysyl hydroxylase activity. Northern analysis of the RNA isolated from skin fibroblasts of the patient demons