Title : A LYVE-1/CRSBP-1 Mutation in Inherited Primary Lymphedema.

Pub. Date : 2017

PMID : 30231303






1 Functional Relationships(s)
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1 Here, we report a missense mutation c.18C>G (p.S6R) in exon 1 within the N-terminal extension domain (outside the hyaluronan binding region) of LYVE-1 in three generations of an inherited lymphedema family with or without clinical symptoms. Hyaluronic Acid lymphatic vessel endothelial hyaluronan receptor 1 Homo sapiens