Homozygous Deficiency of Heparin Cofactor II

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Date of download: 6/2/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Is the Loose Anagen Hair Syndrome a Keratin Disorder?

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Presentation transcript:

Homozygous Deficiency of Heparin Cofactor II by Javier Corral, Justo Aznar, Rocio Gonzalez-Conejero, Piedad Villa, Antonia Miñano, Amparo Vayá, Robin W. Carrell, James A. Huntington, and Vicente Vicente Circulation Volume 110(10):1303-1307 September 7, 2004 Copyright © American Heart Association, Inc. All rights reserved.

A, Identification of HCII Valencia: exon 5, G12809A (Glu428Lys) A, Identification of HCII Valencia: exon 5, G12809A (Glu428Lys). 1, Sequence identified in proband; 2, localization of mutated residue in 3D structure of human HCII; 3, identification of mutation by PCR-ASRA with Mnl I. B, Functional and antigenic HCII values according to G12809A genotype observed in members of affected family. A, Identification of HCII Valencia: exon 5, G12809A (Glu428Lys). 1, Sequence identified in proband; 2, localization of mutated residue in 3D structure of human HCII; 3, identification of mutation by PCR-ASRA with Mnl I. B, Functional and antigenic HCII values according to G12809A genotype observed in members of affected family. MW indicates molecular weight marker. Javier Corral et al. Circulation. 2004;110:1303-1307 Copyright © American Heart Association, Inc. All rights reserved.