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Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C)

✍ Scribed by J. Brinckmann; Yahya Açil; Sergej Feshchenko; Eva Katzer; Rolf Brenner; Andreas Kulozik; Sebastian Kügler


Book ID
106079354
Publisher
Springer-Verlag
Year
1998
Tongue
English
Weight
125 KB
Volume
290
Category
Article
ISSN
0340-3696

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Large kindred with Ehlers-Danlos syndrom
✍ Gilchrist, Dawna; Schwarze, Ulrike; Shields, Keith; MacLaren, Linda; Bridge, Pet 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 1 views

## Ehlers-Danlos syndrome (EDS) type IV is an autosomal dominant connective tissue disorder. Early morbidity and mortality results from rupture of vessels and internal organs. A large kindred with EDS type IV was studied clinically, and the biochemical defects and underlying mutation in the COL3A1