ELN wt Allele

Human ELN wild-type allele is located in the vicinity of 7q11.23 and is approximately 42 kb in length. This allele, which encodes elastin protein, plays a role in the regulation of the structure of the extracellular matrix. Mutations in the gene are associated with autosomal dominant cutis laxa and supravalvular aortic stenosis. Haploinsufficiency may be a factor in Williams-Beuren syndrome. (NCI Thesaurus)

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ELN Gene

This gene is involved in the structure of the extracellular matrix.

Elmustine

A (2-chloroethy1)nitrosourea derivative related to carmustine, with antineoplastic activity.

ELMO1 wt Allele

Human ELMO1 wild-type allele is located in the vicinity of 7p14.1 and is approximately 595 kb in length. This allele, which encodes…

ELMO1 Gene

This gene plays a role in phagocytosis and signal transduction.

Ellis-Van Creveld Syndrome

A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and…

Elliptocytosis

A peripheral blood finding in which a large number of erythrocytes are shaped in an elliptical form.