PIGM-congenital disorder of glycosylation

Definition:

PIGM-congenital disorder of glycosylation (PIGM-CDG) is an autosomal recessive disorder characterized by portal- and hepatic-vein thrombosis and epilepsy. Hypomorphic promoter mutation in PIGN causes this disorder.

References:

[1]. Antonio M Almeida, et al. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat Med. 2006 Jul;12(7):846-51. [Content Brief]

[2]. Antonio M Almeida, et al. Targeted therapy for inherited GPI deficiency. N Engl J Med. 2007 Apr 19;356(16):1641-7. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

MedChemExpress: Contact Us; About Us; Headquarters; Distributors; Statement on False Report; Careers

Customer Support: Technical Support; Service; Ordering Information; Easy Return; Shipping Rates & Policies; Intellectual Property Promise

Resources: Free Sample; Resources; Molarity Calculator; Dilution Calculator; Terms & Conditions; Reconstitution Calculator; Specific Activity Calculator

Subscribe to our E-newsletter

Products are chemical reagents for research use only and are not intended for human use. We do not sell to patients.

Join with us

Name
Email *

	Sorry, but the email address you supplied was invalid.