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Pulkkinen et al., 2001 - Google Patents

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

Pulkkinen et al., 2001

Document ID
17480532422734553995
Author
Pulkkinen L
Nakano A
Ringpfeil F
Uitto J
Publication year
Publication venue
Human genetics

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Snippet

Pseudoxanthoma elasticum (PXE), a heritable disorder affecting the skin, eyes, and the cardiovascular system, has recently been linked to mutations in the ABCC6 gene on chromosome 16p13. 1. The original mutation detection strategy employed by us consisted of …
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