mutations demonstrate different effects on transcript levels Deficiency in the A-subunit of coagulation factor XIII: two novel point
暂无分享,去创建一个
L. Peltonen | A. Palotie | E. Hämäläinen | V. Rasi | E. Vahtera | H. Mikkola | M. Syrjala
[1] E. Ikkala,et al. Transfusion Therapy in Factor XIII (F. S. F.) Deficiency , 2009 .
[2] H. Nevanlinna. The Finnish population structure. A genetic and genealogical study. , 2009, Hereditas.
[3] D. Bowen,et al. Factor XIII ABristol 1: detection of a nonsense mutation (Arg171→+stop codon) in factor XIII A subunit deficiency , 1993, British journal of haematology.
[4] A. Ichinose,et al. Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII. , 1993, Blood.
[5] D. Cooper,et al. Human gene mutations affecting RNA processing and translation. , 1993, Annals of medicine.
[6] P. Board,et al. Identification of a point mutation in factor XIII A subunit deficiency. , 1992, Blood.
[7] T. Kamura,et al. Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III. , 1992, The Journal of clinical investigation.
[8] L. Peltonen,et al. Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing. , 1992, PCR methods and applications.
[9] A. Palotie,et al. N‐ras gene mutations in acute myeloid leukemia: Accurate detection by solid‐phase minisequencing , 1992, International journal of cancer.
[10] L. Peltonen,et al. Acceleration of chronic myeloid leukemia correlates with calcitonin gene hypermethylation. , 1991, Blood.
[11] W. Stüber,et al. A Photometric Assay for Blood Coagulation Factor XIII , 1991, Thrombosis and Haemostasis.
[12] L. Peltonen,et al. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. , 1991, The EMBO journal.
[13] K Kontula,et al. A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. , 1990, Genomics.
[14] E. Davie,et al. Nucleotide sequence of the gene for the b subunit of human factor XIII. , 1990, Biochemistry.
[15] E. Davie,et al. Structure of transglutaminases. , 1990, The Journal of biological chemistry.
[16] A. Syvänen,et al. Direct sequencing of affinity‐captured amplified human DNA application to the detection of apolipoprotein E polymorphism , 1989, FEBS letters.
[17] M. Poon,et al. Hemopoietic origin of factor XIII A subunits in platelets, monocytes, and plasma. Evidence from bone marrow transplantation studies. , 1989, The Journal of clinical investigation.
[18] T. Sekiya,et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[19] H. Erickson,et al. Electron microscopy and hydrodynamic properties of factor XIII subunits. , 1989, The Journal of biological chemistry.
[20] J. Enghild,et al. Isolation of a fibrin-binding fragment from blood coagulation factor XIII capable of cross-linking fibrin(ogen). , 1988, The Biochemical journal.
[21] E. Davie,et al. Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[22] K. Mullis,et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. , 1988, Science.
[23] Y. Kan,et al. Localization of the gene for coagulation factor XIII a-chain to chromosome 6 and identification of sites of synthesis. , 1987, The Journal of clinical investigation.
[24] K. Fujikawa,et al. Amino acid sequence of the a subunit of human factor XIII. , 1986, Biochemistry.
[25] Y. Takahashi,et al. Primary structure of blood coagulation factor XIIIa (fibrinoligase, transglutaminase) from human placenta. , 1986, Proceedings of the National Academy of Sciences of the United States of America.
[26] H. Blau,et al. Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed , 1983, Molecular and cellular biology.
[27] W. Rutter,et al. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. , 1979, Biochemistry.
[28] F. Sanger,et al. DNA sequencing with chain-terminating inhibitors. , 1977, Proceedings of the National Academy of Sciences of the United States of America.
[29] J. Mcdonagh,et al. Factor XIII deficiency: a genetic study of two affected kindreds in Finland. , 1974, Blood.
[30] J. Perheentupa,et al. Hereditary diseases in Finland; rare flora in rare soul. , 1973, Annals of clinical research.
[31] S. Pizzo,et al. Human Factor XIII from plasma and platelets. Molecular weights, subunit structures, proteolytic activation, and cross-linking of fibrinogen and fibrin. , 1973, The Journal of biological chemistry.
[32] F. Duckert. DOCUMENTATION OF THE PLASMA FACTOR XIII DEFICIENCY IN MAN , 1972, Annals of the New York Academy of Sciences.
[33] C. Laurell,et al. Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. , 1966, Analytical biochemistry.
[34] R. Ádány,et al. Immunohistochemical detection of factor XIII subunit a in histiocytes of human uterus , 2004, Histochemistry.
[35] A. Palotie,et al. Development of molecular genetic methods for monitoring myeloid malignancies. , 1993, Scandinavian journal of clinical and laboratory investigation. Supplementum.
[36] G. Webb,et al. Localization of the coagulation factor XIII A subunit gene (F13A) to chromosome bands 6p24----p25. , 1988, Cytogenetics and cell genetics.
[37] F. Duckert,et al. A Hitherto Undescribed Congenital Haemorrhagic Diathesis Probably Due to Fibrin Stabilizing Factor Deficiency , 1961, Thrombosis and Haemostasis.