M. Higuchi

发表

[Forensic application of DNA fingerprints].

K. Olek, J. Holtz, M. Higuchi, 1987, Beitrage zur gerichtlichen Medizin.

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

S. Antonarakis, H. Kazazian, K. Olek, 1990, Genomics.

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.

S. Antonarakis, H. Kazazian, L. Kasch, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.

S. Antonarakis, H. Kazazian, M. Higuchi, 1990, Genomics.

Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes

S. Antonarakis, H. Kazazian, F. Hill, 1998 .

Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis

K. Olek, A. Driesel, M. Higuchi, 1988, Human Genetics.

Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).

S. Antonarakis, M. Higuchi, H. Kazazian, 1989, Proceedings of the National Academy of Sciences of the United States of America.

A somatic mosaic for haemophilia A detected at the DNA level.

K. Olek, M. Higuchi, L. Kochhan, 1988, Molecular biology & medicine.

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

S. Antonarakis, H. Kazazian, J. Oldenburg, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A.

S. Antonarakis, M. Higuchi, H. Kazazian, 1990, Blood.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

E G Tuddenham, S. Bidichandani, J. Gitschier, 1994, Nucleic acids research.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

E G Tuddenham, S. Antonarakis, D. Cooper, 1994, Nucleic acids research.

Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene.

S. Antonarakis, H. Kazazian, M. Higuchi, 1997, American journal of human genetics.

Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis.

R. Schwaab, H. Brackmann, K. Olek, 1989, Blood.

Haemophilia A: Carrier detection by DNA analysis

J. Oldenburg, R. Schwaab, H. Brackmann, 1988, Blut.

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

S. Antonarakis, M. Higuchi, C. Kasper, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

S. Bidichandani, J. Gitschier, R. Schwaab, 1994, Nucleic acids research.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.

D. Cooper, J. Gitschier, R. Schwaab, 1991, Nucleic Acids Research.

Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene

S. Antonarakis, D. Cooper, H. Kazazian, 1991 .

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.

S. Antonarakis, H. Kazazian, L. Kasch, 1991, Proceedings of the National Academy of Sciences of the United States of America.