Congenital factor XIII deficiency in Pakistan: Characterization of seven families and identification of four novel mutations

Haemophilia

Volumn 20, Issue 4, 2014, Pages 568-574

  Borhany, M ^a   Handrkova, H ^b   Cairo, A ^c   Schroeder, V ^b   Fatima, N ^a   Naz, A ^a   Amanat, S ^d   Shamsi, T ^a   Peyvandi, F ^c   Kohler, H P ^b,e  

^a National Institute of Blood Disease and Bone Marrow Transplantation (NIBD)   (Pakistan)

^b UNIVERSITY OF BERN   (Switzerland)

^c UNIVERSITY OF MILAN   (Italy)

^d PAKISTAN ATOMIC ENERGY COMMISSION   (Pakistan)

^e Department of Internal Medicine Spital Netz Bern ^*  (Switzerland)

Author keywords

Coagulation factor XIII; Congenital factor XIII deficiency; Consanguinity; F13A gene mutations; Pakistan; Rare bleeding disorders

Indexed keywords

BLOOD CLOTTING FACTOR 13; COMPLEMENTARY DNA; RNA;

ARTICLE; BLEEDING DISORDER; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CLINICAL ARTICLE; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; FAMILY STUDY; GENE MUTATION; HUMAN; INTRON; MISSENSE MUTATION; PAKISTAN; PEDIGREE ANALYSIS; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION; ADOLESCENT; ADULT; CHEMICAL STRUCTURE; CHEMISTRY; CHILD; FEMALE; GENETICS; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; PROTEIN CONFORMATION; YOUNG ADULT;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FACTOR XIII; FACTOR XIII DEFICIENCY; FEMALE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; PAKISTAN; PEDIGREE; PROTEIN CONFORMATION; YOUNG ADULT;

EID: 84904758209     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/hae.12340     Document Type: Article

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