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HYLS1 encodes a protein localized to the cytoplasm. Additionally we are shipping Hydrolethalus Syndrome 1 Proteins (7) and Hydrolethalus Syndrome 1 Kits (3) and many more products for this protein.
Showing 10 out of 14 products:
Cow (Bovine) Polyclonal HYLS1 Primary Antibody for WB - ABIN2786214
Mee, Honkala, Kopra, Vesa, Finnilä, Visapää, Sang, Jackson, Salonen, Kestilä, Peltonen: Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. in Human molecular genetics 2005
Despite variation in the clinicopathologic phenotype, all cases in the series carried the same homozygous missense mutation in HYLS1
This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified.
hydrolethalus syndrome 1
, hydrolethalus syndrome protein 1
, hydrolethalus syndrome protein 1 homolog