Works matching IS 10597794 AND DT 1994 AND VI 4 AND IP 2

Results: 15

Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 150, doi. 10.1002/humu.1380040210

By:

Vockley, Joseph G.;
Tabor, David E.;
Kern, Rita M.;
Goodman, Barbara K.;
Wissmann, Paul B.;
Kang, D. Soosang;
Grody, Wayne W.;
Cederbaum, Stephen D.

Publication type:

Article

Characterization of a disease-causing Glu<sup>119</sup>-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 102, doi. 10.1002/humu.1380040203

By:

Jensen, Henrik K.;
Jensen, Thomas G.;
Jensen, Lillian G.;
Hansen, Peter S.;
Kjeldsen, Margrethe;
Andresen, Brage S.;
Nielsen, Viggo;
Meinertz, Hans;
Hansen, Annebirthe B.;
Bolund, Lars;
Færgeman, Ole;
Gregersen, Niels

Publication type:

Article

Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 163, doi. 10.1002/humu.1380040214

By:

Çaǧlayan, S. Hande;
Vielhaber, Erica;
Gürsel, Türkiz;
Aktuǧlu, Gülten;
Sommer, Steve S.

Publication type:

Article

Rapid and noninvasive screening of patients with mitochondrial myopathy.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 132, doi. 10.1002/humu.1380040207

By:

Kotsimbos, Nicky;
Jean-Francois, M. J. Bernadette;
Huizing, Marjan;
Kapsa, Robert M. I.;
Lertrit, Patcharee;
Siregar, Nurjati C.;
Marzuki, Sangkot;
Sue, Carolyn;
Byrne, Edward

Publication type:

Article

Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 83, doi. 10.1002/humu.1380040202

By:

Upadhyaya, M.;
Shaw, D. J.;
Harper, P. S.

Publication type:

Article

A novel mutation (G1249R) in exon 20 of the CFTR gene.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 161, doi. 10.1002/humu.1380040213

By:

Dijkstra, Dirk-Jan W.;
Scheffer, Hans;
Buys, Charles H. C. M.

Publication type:

Article

Mutations of the iduronate-2-sulfatase (IDS) gene in patients with hunter syndrome (mucopolysaccharidosis II).

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 128, doi. 10.1002/humu.1380040206

By:

Schröder, Winnie;
Wulff, Karin;
Wehnert, Manfred;
Seidlitz, Günter;
Herrmann, Falko H.

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1994, v. 4, n. 2, p. fmi, doi. 10.1002/humu.1380040201
Publication type:: Article

A tandem CC → TT transition in the p53 gene of a breast cancer.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 158, doi. 10.1002/humu.1380040212

By:

Blaszyk, Hagen;
Hartmann, Arndt;
Wold, Lester E.;
Schroeder, Jennifer J.;
McGovern, Renee M.;
Sommer, Steve S.;
Kovach, John S.

Publication type:

Article

Complex arylsulfatase A alleles causing metachromatic leukodystrophy.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 119, doi. 10.1002/humu.1380040205

By:

Kappler, Joachim;
Sommerlade, Hans Jörg;
von Figura, Kurt;
Gieselmann, Volkmar

Publication type:

Article

Genome scanning detects genetic alterations in human ovarian carcinoma.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 141, doi. 10.1002/humu.1380040209

By:

Magliocco, Anthony M.;
Brilliant, Murray H.

Publication type:

Article

Molecular characterization of a DDEI melting polymorphism at the angiotensin I-converting enzyme (ACE) locus.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 155, doi. 10.1002/humu.1380040211

By:

Doria, Alessandro;
Warram, James H.;
Krolewski, Andrzej S.

Publication type:

Article

Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: Frequent mutation allows screening and early diagnosis.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 114, doi. 10.1002/humu.1380040204

By:

Zschocke, Johannes;
Graham, Colin A.;
Stewart, Fiona J.;
Carson, Dennis J.;
Nevin, Norman C.

Publication type:

Article

Discussion on mutation nomenclature.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 166, doi. 10.1002/humu.1380040215

By:

Cotton, R. G. H.;
Kazazian, H. H.;
Antonarakis, Stylianos E.;
McKusick, Victor A.

Publication type:

Article

Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations.

Published in:

Human Mutation, 1994, v. 4, n. 2, p. 136, doi. 10.1002/humu.1380040208

By:

Bisceglia, L.;
Grifa, A.;
Zelante, L.;
Gasparini, P.

Publication type:

Article