Works matching IS 10597794 AND DT 1998 AND VI 12 AND IP 3

Results: 8

Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysis.

Published in:

Human Mutation, 1998, v. 12, n. 3, p. 177, doi. 10.1002/(SICI)1098-1004(1998)12:3<177::AID-HUMU5>3.0.CO;2-E

By:

Spire-Vayron de la Moureyre, Catherine;
Debuysère, Hervé;
Sabbagh, Nadda;
Marez, Delphine;
Vinner, Elizabeth;
Chevalier, Emmanuel Dany;
Guidice, Jean-Marc Lo;
Broly, Franck

Publication type:

Article

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations.

Published in:

Human Mutation, 1998, v. 12, n. 3, p. 141, doi. 10.1002/(SICI)1098-1004(1998)12:3<141::AID-HUMU1>3.0.CO;2-K

By:

Goodman, Stephen I.;
Stein, Donna E.;
Schlesinger, Sudha;
Christensen, Ernst;
Schwartz, Marianne;
Greenberg, Cheryl R.;
Elpeleg, Orly N.

Publication type:

Article

ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.

Published in:

Human Mutation, 1998, v. 12, n. 3, p. 186, doi. 10.1002/(SICI)1098-1004(1998)12:3<186::AID-HUMU6>3.0.CO;2-F

By:

Sasaki, Tomonari;
Tian, Huaize;
Kukita, Yoji;
Inazuka, Masakazu;
Tahira, Tomoko;
Imai, Takashi;
Yamauchi, Masatake;
Saito, Toshiyuki;
Hori, Tada-aki;
Hashimoto-Tamaoki, Tomoko;
Komatsu, Kenshi;
Nikaido, Osamu;
Hayashi, Kenshi

Publication type:

Article

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.

Published in:

Human Mutation, 1998, v. 12, n. 3, p. 206, doi. 10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E

By:

Finckh, Ulrich;
Kohlschütter, Alfried;
Schäfer, Hansjörg;
Sperhake, Katja;
Colombo, Jean-Pierre;
Gal, Andreas

Publication type:

Article

Information analysis of human splice site mutations.

Published in:

Human Mutation, 1998, v. 12, n. 3, p. 153, doi. 10.1002/(SICI)1098-1004(1998)12:3<153::AID-HUMU3>3.0.CO;2-I

By:

Rogan, Peter K.;
Faux, Brian M.;
Schneider, Thomas D.

Publication type:

Article

V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.

Published in:

Human Mutation, 1998, v. 12, n. 3, p. 196, doi. 10.1002/(SICI)1098-1004(1998)12:3<196::AID-HUMU7>3.0.CO;2-F

By:

Schöneberg, Torsten;
Schulz, Angela;
Biebermann, Heike;
Grüters, Anette;
Grimm, Torsten;
Hübschmann, Klaus;
Filler, Guido;
Gudermann, Thomas;
Schultz, Günter

Publication type:

Article

Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.

Published in:

Human Mutation, 1998, v. 12, n. 3, p. 145, doi. 10.1002/(SICI)1098-1004(1998)12:3<145::AID-HUMU2>3.0.CO;2-G

By:

Levran, Orna;
Doggett, Norman A.;
Auerbach, Arleen D.

Publication type:

Article

Five families with arginine<sup>519</sup>-cysteine mutation in COL2A1: Evidence for three distinct founders.

Published in:

Human Mutation, 1998, v. 12, n. 3, p. 172, doi. 10.1002/(SICI)1098-1004(1998)12:3<172::AID-HUMU4>3.0.CO;2-J

By:

Bleasel, Jane F.;
Holderbaum, Daniel;
Brancolini, Valeria;
Moskowitz, Roland W.;
Considine, Eileen L.;
Prockop, Darwin J.;
Devoto, Marcella;
Williams, Charlene J.

Publication type:

Article