Literature DB >> 2041805

Haemophilia B: database of point mutations and short additions and deletions--second edition.

F Giannelli1, P M Green, K A High, S Sommer, D P Lillicrap, M Ludwig, K Olek, P H Reitsma, M Goossens, A Yoshioka.   

Abstract

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Year:  1991        PMID： 2041805      PMCID： PMC331353          DOI： 10.1093/nar/19.suppl.2193

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


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  58 in total

1.  Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX.

Authors:  B G Schach; S Yoshitake; E W Davie
Journal:  J Clin Invest       Date:  1987-10       Impact factor: 14.808

2.  Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4.

Authors:  A K Bentley; D J Rees; C Rizza; G G Brownlee
Journal:  Cell       Date:  1986-05-09       Impact factor: 41.582

3.  Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B.

Authors:  L M Davis; R A McGraw; J L Ware; H R Roberts; D W Stafford
Journal:  Blood       Date:  1987-01       Impact factor: 22.113

4.  Genetic defect responsible for the dysfunctional protein: factor IXLong Beach.

Authors:  J Ware; L Davis; D Frazier; S P Bajaj; D W Stafford
Journal:  Blood       Date:  1988-08       Impact factor: 22.113

5.  Haemophilia B+ with inhibitor.

Authors:  M Ludwig; R Schwaab; K Olek; H H Brackmann; H Egli
Journal:  Thromb Haemost       Date:  1988-04-08       Impact factor: 5.249

6.  The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.

Authors:  C D Bottema; R P Ketterling; H S Yoon; S S Sommer
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

7.  Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.

Authors:  M C Poon; D H Chui; M Patterson; D M Starozik; L S Dimnik; D I Hoar
Journal:  J Clin Invest       Date:  1987-04       Impact factor: 14.808

8.  The putative factor IX gene promoter in hemophilia B Leyden.

Authors:  P H Reitsma; R M Bertina; J K Ploos van Amstel; A Riemens; E Briët
Journal:  Blood       Date:  1988-09       Impact factor: 22.113

9.  Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.

Authors:  C M Noyes; M J Griffith; H R Roberts; R L Lundblad
Journal:  Proc Natl Acad Sci U S A       Date:  1983-07       Impact factor: 11.205

10.  Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor.

Authors:  D L Diuguid; M J Rabiet; B C Furie; H A Liebman; B Furie
Journal:  Proc Natl Acad Sci U S A       Date:  1986-08       Impact factor: 11.205
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  20 in total

1.  The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.

Authors:  M Krawczak; J Reiss; D N Cooper
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

2.  Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992.

Authors:  F Giannelli; P M Green; K A High; S Sommer; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1992-05-11       Impact factor: 16.971

3.  The EMBL Data Library.

Authors:  D G Higgins; R Fuchs; P J Stoehr; G N Cameron
Journal:  Nucleic Acids Res       Date:  1992-05-11       Impact factor: 16.971

4.  Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III.

Authors:  T Kamura; T Okamura; M Murakawa; H Tsuda; T Teshima; T Shibuya; M Harada; Y Niho
Journal:  J Clin Invest       Date:  1992-08       Impact factor: 14.808

5.  Haemophilia B: database of point mutations and short additions and deletions, 7th edition.

Authors:  F Giannelli; P M Green; S S Sommer; M C Poon; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka; M S Figueiredo; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

6.  Differential termination of primer extension: a novel, quantifiable method for detection of point mutations.

Authors:  D J Picketts; C Cameron; S A Taylor; K V Deugau; D P Lillicrap
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

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

Authors:  F Giannelli; P M Green; K A High; S Sommer; M C Poon; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1993-07-01       Impact factor: 16.971

8.  The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene.

Authors:  C D Bottema; R P Ketterling; E Vielhaber; H S Yoon; B Gostout; D P Jacobson; A Shapiro; S S Sommer
Journal:  Hum Genet       Date:  1993-06       Impact factor: 4.132

9.  Mammalian gene evolution: nucleotide sequence divergence between mouse and rat.

Authors:  K H Wolfe; P M Sharp
Journal:  J Mol Evol       Date:  1993-10       Impact factor: 2.395

10.  Structural gene aberrations in mucopolysaccharidosis II (Hunter).

Authors:  M Wehnert; J J Hopwood; W Schröder; F H Herrmann
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132
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