A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency

Blood Coagulation and Fibrinolysis

Volumn 22, Issue 4, 2011, Pages 264-270

  Jiang, Minghua ^a   Wang, Zhaoyue ^a   Yu, Ziqiang ^a   Bai, Xia ^a   Su, Jian ^a   Cao, Lijuan ^a   Zhang, Wei ^a   Ruan, Changgeng ^a  

^a THE FIRST AFFILIATED HOSPITAL OF SOOCHOW UNIVERSITY   (China)

Author keywords

factor VII deficiency; gene mutation; subcellular localization

Indexed keywords

BLOOD CLOTTING FACTOR 7; PHENYLALANINE; SERINE;

ADULT; ANIMAL CELL; ANTIGEN EXPRESSION; ARTICLE; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CASE REPORT; CELLULAR DISTRIBUTION; CHINESE; DNA SEQUENCE; ENDOPLASMIC RETICULUM; GOLGI COMPLEX; HUMAN; MALE; MISSENSE MUTATION; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTHROMBIN TIME; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHO CELLS; CRICETINAE; CRICETULUS; ENDOPLASMIC RETICULUM; FACTOR VII; FACTOR VII DEFICIENCY; GENOTYPE; GOLGI APPARATUS; HEK293 CELLS; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PEDIGREE; PLASMIDS; PROTHROMBIN TIME; RECOMBINANT PROTEINS; TRANSFECTION;

EID: 79955947516     PISSN: 09575235     EISSN: 14735733     Source Type: Journal    
DOI: 10.1097/MBC.0b013e3283447388     Document Type: Article

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