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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.
Am J Hum Genet. 1997.
PMID: 8981946
Free PMC article.
Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients.
Heikkinen J, Hautala T, Kivirikko KI, Myllylä R.
Heikkinen J, et al.
Genomics. 1994 Dec;24(3):464-71. doi: 10.1006/geno.1994.1654.
Genomics. 1994.
PMID: 7713497
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