Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency

Thrombosis and Haemostasis

Volumn 102, Issue 2, 2009, Pages 287-301

  Saunders, Rebecca E ^a   Shiltagh, Nuha ^a   Gomez, Keith ^b   Mellars, Gillian ^b   Cooper, Carolyn ^c   Perry, David J ^c   Tuddenham, Edward G ^b   Perkins, Stephen J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ROYAL FREE HOSPITAL   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Coagulation; Factor XI; Mutations; Web database

Indexed keywords

BLOOD CLOTTING FACTOR 11; DIMER; SERINE PROTEINASE; DNA;

ARTICLE; BETA SHEET; BLEEDING; BLEEDING DISORDER; BLOOD CLOTTING; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CRYSTAL STRUCTURE; DATA BASE; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; STRUCTURE ANALYSIS; SYMPTOMATOLOGY; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BLOOD; CHEMICAL STRUCTURE; CHEMISTRY; DIMERIZATION; DOMINANT GENE; GENETIC DATABASE; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN QUATERNARY STRUCTURE; PROTEIN TERTIARY STRUCTURE; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; X RAY CRYSTALLOGRAPHY;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CRYSTALLOGRAPHY, X-RAY; DATABASES, GENETIC; DIMERIZATION; DNA; FACTOR XI; FACTOR XI DEFICIENCY; GENES, DOMINANT; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN FOLDING; PROTEIN STRUCTURE, QUATERNARY; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 70350464419     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH09-01-0044     Document Type: Article

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