Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency

Haematologica

Volumn 90, Issue 3, 2005, Pages 418-419

  Germanos Haddad, Myrna ^a   De Moerloose, Philippe ^b,e   Boehlen, Françoise ^b   Peyvandi, Flora ^c   Neerman Arbez, Marguerite ^b,d  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b UNIVERSITY HOSPITAL   (Switzerland)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^d UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^e GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Factor XI deficiency; Hemostasis bleeding disorder; Mutation

Indexed keywords

ADULT; ARTICLE; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CASE REPORT; ENZYME ACTIVE SITE; FEMALE; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LEBANON; MISSENSE MUTATION; PHENOTYPE; SIBLING;

CATALYTIC DOMAIN; FACTOR XI; FACTOR XI DEFICIENCY; FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; LEBANON; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE;

EID: 15244349227     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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