Novel phenotype and γ-glutamyl carboxylase mutations in combined deficiency of vitamin K-dependent coagulation factors

Haemophilia

Volumn 17, Issue 5, 2011, Pages 822-824

  Lunghi, B ^a   Redaelli, R ^b   Caimi, T M ^b   Corno, A R ^b   Bernardi, F ^a   Marchetti, G ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b OSPEDALE NIGUARDA CA GRANDA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLASE; GAMMA GLUTAMYL CARBOXYLASE; UNCLASSIFIED DRUG; VITAMIN K GROUP;

ADULT; AMINO ACID SUBSTITUTION; BLEEDING; BLOOD CLOTTING DISORDER; CASE REPORT; COMBINED DEFICIENCY OF VITAMIN K DEPENDENT CLOTTING FACTOR; DRUG EFFICACY; EXON; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; HEMARTHROSIS; HETEROZYGOTE; HUMAN; LETTER; MALE; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; PROTHROMBIN TIME; VITAMIN K DEFICIENCY; VITAMIN SUPPLEMENTATION;

ADOLESCENT; CARBON-CARBON LIGASES; COAGULATION PROTEIN DISORDERS; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MUTATION; PHENOTYPE; VITAMIN K; VITAMIN K DEFICIENCY;

EID: 80052026101     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2011.02524.x     Document Type: Letter

References (5)

1. Brenner B, Kuperman AA, Watzka M, Oldenburg J. Vitamin K-dependent coagulation factors deficiency. Semin Thromb Hemost 2009; 35: 439-46.
2. Weston BW, Monahan PE. Familial deficiency of vitamin K-dependent clotting factors. Haemophilia 2008; 14: 1209-13.
3. Begley GS, Furie BC, Czerwiec E et al. A conserved motif within the vitamin K-dependent carboxylase gene is widely distributed across animal phyla. J Biol Chem 2000; 275: 36245-9.
4. Tie J, Wu SM, Jin D, Nicchitta CV, Stafford DW. A topology study of the human gamma-glutamyl carboxylase. Blood 2000; 96: 973-8.
5. Tie JK, Zheng MY, Hsiao KLN, Perera L, Stafford DW, Straight DL. Transmembrane domain interactions and residue proline 378 are essential for proper structure, especially disulfide bond formation, in the human vitamin K-dependent γ-glutamyl carboxylase. Biochemistry 2008; 47: 6301-10.