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Eyre D, Shao P, Weis MA, Steinmann B. The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine. Mol Genet Metab. 2002 Jul;76(3):211-6.
Giunta C, Bürer-Chambaz C, Steinmann B. Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type. Hum Genet. 2009 Apr;125(3):346.
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Heikkinen J, Toppinen T, Yeowell H, Krieg T, Steinmann B, Kivirikko KI, Myllylä R. Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet. 1997 Jan;60(1):48-56.
Rohrbach M, Vandersteen A, Yiş U, Serdaroglu G, Ataman E, Chopra M, Garcia S, Jones K, Kariminejad A, Kraenzlin M, Marcelis C, Baumgartner M, Giunta C. Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis. 2011 Jun 23;6:46. doi: 10.1186/1750-1172-6-46.
: November 2015
: November 23, 2015
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