Literature DB >> 3149806

The molecular basis of hemophilia A in man.

S E Antonarakis, H H Kazazian.   

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Year:  1988        PMID： 3149806     DOI： 10.1016/0168-9525(88)90156-4

Source DB:  PubMed          Journal:  Trends Genet        ISSN： 0168-9525            Impact factor:   11.639


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  15 in total

1.  MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population.

Authors:  H Inaba; M Fujimaki; H H Kazazian; S E Antonarakis
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

2.  Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

Authors:  M Higuchi; S E Antonarakis; L Kasch; J Oldenburg; E Economou-Petersen; K Olek; M Arai; H Inaba; H H Kazazian
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

3.  Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.

Authors:  D D Koeberl; C D Bottema; G Sarkar; R P Ketterling; S H Chen; S S Sommer
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

4.  Hemophilia A due to mutations that create new N-glycosylation sites.

Authors:  A M Aly; M Higuchi; C K Kasper; H H Kazazian; S E Antonarakis; L W Hoyer
Journal:  Proc Natl Acad Sci U S A       Date:  1992-06-01       Impact factor: 11.205

5.  Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

Authors:  D D Koeberl; C D Bottema; R P Ketterling; P J Bridge; D P Lillicrap; S S Sommer
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

6.  Characterisation of a 5-bp deletion in exon 4 of the factor VIII gene: concordance with slipped-mispairing at DNA replication.

Authors:  S I Bidichandani; W G Lanyon; J M Connor
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

7.  Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

Authors:  J K Reichardt; S L Woo
Journal:  Proc Natl Acad Sci U S A       Date:  1991-04-01       Impact factor: 11.205

8.  Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.

Authors:  M Higuchi; H H Kazazian; L Kasch; T C Warren; M J McGinniss; J A Phillips; C Kasper; R Janco; S E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-15       Impact factor: 11.205

9.  Molecular analysis of 11 galactosemia patients.

Authors:  J K Reichardt
Journal:  Nucleic Acids Res       Date:  1991-12       Impact factor: 16.971

Review 10.  Diagnostic approaches to renal genetic disorders using DNA analysis.

Authors:  C A Francomano
Journal:  Pediatr Nephrol       Date:  1992-01       Impact factor: 3.714
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