Works matching IS 10597794 AND DT 1998 AND VI 11 AND IP 1

Results: 14

Detection of APC mutations in stool DNA of patients with colorectal cancer by HD-PCR.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 84, doi. 10.1002/(SICI)1098-1004(1998)11:1<84::AID-HUMU13>3.0.CO;2-V

By:

Deuter, Rainer;
Müller, Oliver

Publication type:

Article

In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 4, doi. 10.1002/(SICI)1098-1004(1998)11:1<4::AID-HUMU2>3.0.CO;2-L

By:

Waters, Paula J.;
Parniak, Michael A.;
Nowacki, Piotr;
Scriver, Charles R.

Publication type:

Article

Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 39, doi. 10.1002/(SICI)1098-1004(1998)11:1<39::AID-HUMU6>3.0.CO;2-G

By:

van Rensburg, Estrelita J.;
Engelbrecht, Susan;
van Heerden, Willem F. P.;
Kotze, Maritha J.;
Raubenheimer, Erich J.

Publication type:

Article

Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 76, doi. 10.1002/(SICI)1098-1004(1998)11:1<76::AID-HUMU12>3.0.CO;2-W

By:

Liu, Tze-Tze;
Hsiao, Kwang-Jen;
Lu, Sheng-Feng;
Wu, Sheu-Jen;
Wu, Kuei-Fen;
Chiang, Szu-Hui;
Liu, Xiao-Quing;
Chen, Rui-Guan;
Yu, Wei-Min

Publication type:

Article

Recommendations for a nomenclature system for human gene mutations.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O

By:

Antonarakis, Stylianos E.

Publication type:

Article

The Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 28, doi. 10.1002/(SICI)1098-1004(1998)11:1<28::AID-HUMU5>3.0.CO;2-H

By:

Lai, Kent;
Langley, Sharon D.;
Dembure, Philip P.;
Hjelm, Lawrence N.;
Elsas, Louis J.

Publication type:

Article

A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 55, doi. 10.1002/(SICI)1098-1004(1998)11:1<55::AID-HUMU9>3.0.CO;2-K

By:

Pousi, Birgitta;
Hautala, Timo;
Hyland, James C.;
Schröter, Jukka;
Eckes, Beate;
Kivirikko, Kari I.;
Myllylä, Raili

Publication type:

Article

Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 69, doi. 10.1002/(SICI)1098-1004(1998)11:1<69::AID-HUMU11>3.0.CO;2-X

By:

Gilad, Shlomit;
Khosravi, Rami;
Harnik, Reli;
Ziv, Yael;
Shkedy, Dganit;
Galanty, Yaron;
Frydman, Moshe;
Levi, Jacov;
Sanal, Ozden;
Chessa, Luciana;
Smeets, Dominique;
Shiloh, Yosef;
Bar-Shira, Anat

Publication type:

Article

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 23, doi. 10.1002/(SICI)1098-1004(1998)11:1<23::AID-HUMU4>3.0.CO;2-M

By:

Cancel, Géraldine;
Gourfinkel-An, Isabelle;
Stevanin, Giovanni;
Didierjean, Olivier;
Abbas, Nacer;
Hirsch, Etienne;
Agid, Yves;
Brice, Alexis

Publication type:

Article

Mutation analysis of interleukin-5 in an asthmatic cohort.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 51, doi. 10.1002/(SICI)1098-1004(1998)11:1<51::AID-HUMU8>3.0.CO;2-O

By:

Pereira, Emma;
Goldblatt, Jack;
Rye, Peter;
Sanderson, Colin;
Le Souëf, Peter

Publication type:

Article

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 62, doi. 10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X

By:

Tanner, Stephan M.;
Laporte, Jocelyn;
Guiraud-Chaumeil, Christophe;
Liechti-Gallati, Sabina

Publication type:

Article

Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 90, doi. 10.1002/(SICI)1098-1004(1998)11:1<90::AID-HUMU14>3.0.CO;2-U

By:

Dörk, Thilo;
Stuhrmann, Manfred;
Miller, Konstantin;
Schmidtke, Jörg

Publication type:

Article

Protein truncation test: Detection of severe haemophilia A mutation and analysis of factor VIII transcripts.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 18, doi. 10.1002/(SICI)1098-1004(1998)11:1<18::AID-HUMU3>3.0.CO;2-H

By:

Maugard, Claude;
Tuffery, Sylvie;
Aguilar-Martinez, Patricia;
Schved, Jean-François;
Gris, Jean-Christophe;
Demaille, Jacques;
Claustres, Mireille

Publication type:

Article

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 45, doi. 10.1002/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.0.CO;2-K

By:

Manning, Bernadette M.;
Quane, Kathleen A.;
Lynch, Patrick J.;
Urwyler, Albert;
Tegazzin, Vincenzo;
Krivosic-Horber, Renee;
Censier, Kathrin;
Comi, Giacomo;
Adnet, Pascal;
Wolz, Werner;
Lunardi, Joel;
Muller, Clemens R.;
McCarthy, Tommie V.

Publication type:

Article