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Biochemical characterization of variants of the Ehlers-Danlos syndrome type VI

✍ Scribed by ANNEGRET IHME; LEILA RISTELI; THOMAS KRIEG; JUHA RISTELL; URSULA FELDMANN; KLAUS KRUSE; PETER K. MÜLLER


Book ID
114726327
Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
597 KB
Volume
13
Category
Article
ISSN
0014-2972

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The parents of a child with the clinical symptoms of Ehlers-Danlos syndrome type VI were identified as third-degree cousins. Biochemical analysis of the dermis of the patient revealed a complete lack of hydroxylysine in the dermal collagen. The dermis of both parents contained only half the amount o