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A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease.
PMID: 5016372 [PubMed - indexed for MEDLINE]
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Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
Giunta C, Elçioglu NH, Albrecht B, Eich G, Chambaz C, Janecke AR, Yeowell H, Weis M, Eyre DR, Kraenzlin M, et al.
Am J Hum Genet. 2008 Jun; 82(6):1290-305.
[Am J Hum Genet. 2008]
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Premature aggregation of type IV collagen and early lethality in lysyl hydroxylase 3 null mice.
Rautavuoma K, Takaluoma K, Sormunen R, Myllyharju J, Kivirikko KI, Soininen R.
Proc Natl Acad Sci U S A. 2004 Sep 28; 101(39):14120-5. Epub 2004 Sep 17.
[Proc Natl Acad Sci U S A. 2004]
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ReviewThe role of collagenase in emphysema.
Foronjy R, D'Armiento J.
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[Respir Res. 2001]
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