Works matching IS 10597794 AND DT 1998 AND VI 12 AND IP 5

Results: 9

Molecular diagnostics of 15 hemophilia A patients: Characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.

Published in:

Human Mutation, 1998, v. 12, n. 5, p. 301, doi. 10.1002/(SICI)1098-1004(1998)12:5<301::AID-HUMU2>3.0.CO;2-G

By:

Tavassoli, Kamiab;
Eigel, Antonin;
Wilke, Klaus;
Pollmann, Hartmut;
Horst, Jürgen

Publication type:

Article

ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.

Published in:

Human Mutation, 1998, v. 12, n. 5, p. 330, doi. 10.1002/(SICI)1098-1004(1998)12:5<330::AID-HUMU6>3.0.CO;2-H

By:

Broeks, A;
de Klein, A;
Floore, AN;
Muijtjens, M;
Kleijer, WJ;
Jaspers, NG;
van 't Veer, LJ

Publication type:

Article

Testing environment for single-gene disorders in U.S. reference laboratories.

Published in:

Human Mutation, 1998, v. 12, n. 5, p. 293, doi. 10.1002/(SICI)1098-1004(1998)12:5<293::AID-HUMU1>3.0.CO;2-F

By:

Amos, Jean;
Gold, Bert

Publication type:

Article

A frequent TG deletion near the polyadenylation signal of the human HEXB gene: Occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3′ untranslated region.

Published in:

Human Mutation, 1998, v. 12, n. 5, p. 320, doi. 10.1002/(SICI)1098-1004(1998)12:5<320::AID-HUMU5>3.0.CO;2-H

By:

Kleiman, FE;
Ramírez, A. Oller;
Akerman, B;
Dodelson de Kremer, R;
Gravel, RA;
Argaraña, CE

Publication type:

Article

Rapid and nonisotopic SSCP-based analysis of the BAT-26 mononucleotide repeat for identification of the replication error phenotype in human cancers.

Published in:

Human Mutation, 1998, v. 12, n. 5, p. 355, doi. 10.1002/(SICI)1098-1004(1998)12:5<355::AID-HUMU9>3.0.CO;2-C

By:

Iacopetta, Barry;
Hamelin, Richard

Publication type:

Article

Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.

Published in:

Human Mutation, 1998, v. 12, n. 5, p. 314, doi. 10.1002/(SICI)1098-1004(1998)12:5<314::AID-HUMU4>3.0.CO;2-D

By:

Popescu, Teodora;
Blazkova, Michaela;
Kozak, Libor;
Jebeleanu, Gheorghe;
Popescu, Antonia

Publication type:

Article

Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene ( PAH).

Published in:

Human Mutation, 1998, v. 12, n. 5, p. 344, doi. 10.1002/(SICI)1098-1004(1998)12:5<344::AID-HUMU8>3.0.CO;2-D

By:

Waters, Paula J.;
Parniak, Michael A.;
Hewson, A. Stacy;
Scriver, Charles R.

Publication type:

Article

Ten novel mutations found in aniridia.

Published in:

Human Mutation, 1998, v. 12, n. 5, p. 304, doi. 10.1002/(SICI)1098-1004(1998)12:5<304::AID-HUMU3>3.0.CO;2-D

By:

Wolf, Matthias T. F.;
Lorenz, B;
Winterpacht, A;
Drechsler, M;
Schumacher, V;
Royer-Pokora, B;
Blankenagel, A;
Zabel, B;
Wildhardt, G

Publication type:

Article

Ataxia-telangiectasia in the Japanese population: Identification of R1917X, W2491R, R2909G, IVS33+2T→A, and 7883del5, the latter two being relatively common mutations.

Published in:

Human Mutation, 1998, v. 12, n. 5, p. 338, doi. 10.1002/(SICI)1098-1004(1998)12:5<338::AID-HUMU7>3.0.CO;2-9

By:

Fukao, Toshiyuki;
Song, Xiang-Qian;
Yoshida, Toko;
Tashita, Hideaki;
Kaneko, Hideo;
Teramoto, Takahide;
Inoue, Ryosuke;
Katamura, Kenji;
Mayumi, Mitsufumi;
Hiratani, Michio;
Taniguchi, Noboru;
Arai, Junichi;
Wakiguchi, Hiroshi;
Bar-Shira, Anat;
Shiloh, Yosef;
Kondo, Naomi

Publication type:

Article