Literature DB >> 8392713

Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993.

F Giannelli1, P M Green, K A High, S Sommer, M C Poon, M Ludwig, R Schwaab, P H Reitsma, M Goossens, A Yoshioka.   

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Year:  1993        PMID： 8392713      PMCID： PMC309734          DOI： 10.1093/nar/21.13.3075

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  90 in total

1.  Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype).

Authors:  P H Reitsma; T Mandalaki; C K Kasper; R M Bertina; E Briët
Journal:  Blood       Date:  1989-02-15       Impact factor: 22.113

2.  Functional consequences of an arginine180 to glutamine mutation in factor IX Hilo.

Authors:  D M Monroe; D M McCord; M N Huang; K A High; R L Lundblad; C K Kasper; H R Roberts
Journal:  Blood       Date:  1989-05-01       Impact factor: 22.113

3.  Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B.

Authors:  S H Chen; C R Scott; J Schoof; E W Lovrien; K Kurachi
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

4.  Identification of a CpG mutation in the coagulation factor-IX gene by analysis of amplified DNA sequences.

Authors:  V Siguret; S Amselem; M Vidaud; Z Assouline; D Kerbiriou-Nabias; G Piétu; M Goossens; M J Larrieu; B Bahnak; D Meyer
Journal:  Br J Haematol       Date:  1988-12       Impact factor: 6.998

5.  Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements.

Authors:  C D Bottema; R P Ketterling; S Ii; H S Yoon; J A Phillips; S S Sommer
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

6.  Molecular defect in factor IXHilo, a hemophilia Bm variant: Arg----Gln at the carboxyterminal cleavage site of the activation peptide.

Authors:  M N Huang; C K Kasper; H R Roberts; D W Stafford; K A High
Journal:  Blood       Date:  1989-02-15       Impact factor: 22.113

7.  Why does the human factor IX gene have a G + C content of 40%?

Authors:  C D Bottema; M J Bottema; R P Ketterling; H S Yoon; R L Janco; J A Phillips; S S Sommer
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

8.  Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity.

Authors:  P M Green; A J Montandon; R Ljung; D R Bentley; I M Nilsson; S Kling; F Giannelli
Journal:  Br J Haematol       Date:  1991-07       Impact factor: 6.998

9.  A new trisaccharide sugar chain linked to a serine residue in bovine blood coagulation factors VII and IX.

Authors:  S Hase; S Kawabata; H Nishimura; H Takeya; T Sueyoshi; T Miyata; S Iwanaga; T Takao; Y Shimonishi; T Ikenaka
Journal:  J Biochem       Date:  1988-12       Impact factor: 3.387

10.  A moderate form of hemophilia B is caused by a novel mutation in the protease domain of factor IXVancouver.

Authors:  V A Geddes; B F Le Bonniec; G V Louie; G D Brayer; A R Thompson; R T MacGillivray
Journal:  J Biol Chem       Date:  1989-03-15       Impact factor: 5.157
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  19 in total

1.  A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B.

Authors:  Marcello Niceta; Carmelo Fabiano; Pietro Sammarco; Fabio Gagliano; Giacomo Mancuso
Journal:  Intern Emerg Med       Date:  2006       Impact factor: 3.397

2.  An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden.

Authors:  Sumiko Kurachi; Jeffrey S Huo; Afshin Ameri; Kezhong Zhang; Akiyasu C Yoshizawa; Kotoku Kurachi
Journal:  Proc Natl Acad Sci U S A       Date:  2009-04-28       Impact factor: 11.205

3.  Determinants of the factor IX mutational spectrum in haemophilia B: an analysis of missense mutations using a multi-domain molecular model of the activated protein.

Authors:  A I Wacey; M Krawczak; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1994-12       Impact factor: 4.132

4.  Site-specific O-glucosylation of the epidermal growth factor-like (EGF) repeats of notch: efficiency of glycosylation is affected by proper folding and amino acid sequence of individual EGF repeats.

Authors:  Hideyuki Takeuchi; Joshua Kantharia; Maya K Sethi; Hans Bakker; Robert S Haltiwanger
Journal:  J Biol Chem       Date:  2012-08-07       Impact factor: 5.157

5.  The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene.

Authors:  R P Ketterling; E Vielhaber; S S Sommer
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

6.  A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C.

Authors:  P J Hallam; A I Wacey; P M Mannucci; C Legnani; W Kühnau; M Krawczak; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

7.  The European Bioinformatics Institute (EBI) databases.

Authors:  D B Emmert; P J Stoehr; G Stoesser; G N Cameron
Journal:  Nucleic Acids Res       Date:  1994-09       Impact factor: 16.971

8.  Yale database for DNA sequence changes in mutagenesis.

Authors:  F Hutchinson; J E Donnellan
Journal:  Nucleic Acids Res       Date:  1994-09       Impact factor: 16.971

9.  Germ line origins of de novo mutations in hemophilia B families.

Authors:  A R Thompson; S H Chen
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

10.  Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.

Authors:  P Aguilar-Martinez; M C Romey; J F Schved; J C Gris; J Demaille; M Claustres
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132
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