Works matching IS 10597794 AND DT 1994 AND VI 3 AND IP 1

Results: 17

Masthead.

Published in:: Human Mutation, 1994, v. 3, n. 1, p. fmi, doi. 10.1002/humu.1380030101
Publication type:: Article

Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 67, doi. 10.1002/humu.1380030112

By:

Golla, Astrid;
Deufel, Annette;
Aulehla-Scholz, Christa;
Böhm, Ingolf;
Hilz, Bruno;
Meitinger, Thomas;
Deufel, Thomas

Publication type:

Article

DNA mutational analysis of type 1 and type 3 gaucher patients: How well do mutations predict phenotype?

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 25, doi. 10.1002/humu.1380030105

By:

Sidransky, Ellen;
Bottler, Anja;
Stubblefield, Barbara;
Ginns, Edward I.

Publication type:

Article

A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 76, doi. 10.1002/humu.1380030116

By:

Purandare, Smita M.;
Davidson, H. Rosemary;
Lanyon, W. George;
Connor, J. Michael

Publication type:

Article

Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 52, doi. 10.1002/humu.1380030109

By:

Ma, Yuanhong;
Liu, Ming-Sun;
Chitayat, David;
Bruin, Taco;
Beisiegel, Ulrike;
Benlian, Pascale;
Foubert, Luc;
De Gennes, Jean Luc;
Funke, Harald;
Forsythe, Ian;
Blaichman, Shirley;
Papanikolaou, Maria;
Erkelens, D. W.;
Kastelein, John;
Brunzell, John D.;
Hayden, Michael R.

Publication type:

Article

Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 64, doi. 10.1002/humu.1380030111

By:

Deufel, Annette;
Deufel, Thomas;
Golla, Astrid;
Achatz, Helene;
Bertele-Harms, Rosemarie;
Roscher, Adelbert A.;
Meitinger, Thomas

Publication type:

Article

Enzymatic amplification of synthetic oligodeoxyribonucleotides: Implications for triplet repeat expansions in the human genome.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 19, doi. 10.1002/humu.1380030104

By:

Behn-Krappa, Annett;
Doerfler, Walter

Publication type:

Article

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 73, doi. 10.1002/humu.1380030115

By:

Villa, A.;
Strina, D.;
Macchi, P.;
Patrosso, M. C.;
Vezzoni, P.;
Tovo, P. A.;
Giliani, S.;
Ugazio, A. G.;
Notarangelo, L. D.

Publication type:

Article

Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 44, doi. 10.1002/humu.1380030108

By:

Kato, Mitsuo V.;
Ishizaki, Kanji;
Toguchida, Junya;
Kaneko, Akihiro;
Takayama, Jun;
Tanooka, Hiroshi;
Kato, Tomohisa;
Shimizu, Takashi;
Sasaki, Masao S.

Publication type:

Article

Reverse dot blot probes for the screening of β-thalassernia mutationsin Asians and American blacks.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 59, doi. 10.1002/humu.1380030110

By:

Cai, Shi-Ping;
Wall, Jeff;
Kan, Yuet Wai;
Chehab, Farid F.

Publication type:

Article

Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 12, doi. 10.1002/humu.1380030103

By:

Koorey, David J.;
McCaughan, Geoffrey W.;
Trent, Ronald J.;
Gallagher, Neil D.

Publication type:

Article

A novel δº-Thalassemia mutation: TGG→TAG (TRP→STOP) at codon 37.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 71, doi. 10.1002/humu.1380030114

By:

Gasperini, D.;
Perseu, L.;
Cossu, P.;
Podda, R.;
Cao, A.;
Galanello, R.

Publication type:

Article

A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 37, doi. 10.1002/humu.1380030107

By:

Silvestri, G.;
Santorelli, F. M.;
Shanske, S.;
Whitley, C. B.;
Schimmenti, L. A.;
Smith, S. A.;
DiMauro, S.

Publication type:

Article

Mutations causing gaucher disease.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 1, doi. 10.1002/humu.1380030102

By:

Horowitz, Mia;
Zimran, Ari

Publication type:

Article

Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 69, doi. 10.1002/humu.1380030113

By:

Bienvenu, Thierry;
Lenoir, Gérard;
Fonknechten, Nuria;
Desclaux-Arramond, François;
Kaplan, Jean Claude;
Beldjord, Cherif

Publication type:

Article

Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy.

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 29, doi. 10.1002/humu.1380030106

By:

Huoponen, Kirsi;
Juvonen, Vesa;
Iitiä, Antti;
Dahlen, Patrik;
Siitari, Harri;
Aula, Pertti;
Nikoskelainen, Eeva;
Savontaus, Marja-Liisa

Publication type:

Article

Linkage disequilibrium across the fibrinogen locus as shown by five genetic polymorphisms, G/A −455 ( HaeIII), C/T −148 ( HindIII/ AluI), T/G+1689 ( AvaII), and BclI (β-fibrinogen) and TaqI (α-fibrinogen), and their detection by PCR

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 79, doi. 10.1002/humu.1380030117

By:

Thomas, Angela;
Lamlum, Hanan;
Humphries, Steve;
Green, Fiona

Publication type:

Article

Works matching IS 10597794 AND DT 1994 AND VI 3 AND IP 1

Masthead.

Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency.

DNA mutational analysis of type 1 and type 3 gaucher patients: How well do mutations predict phenotype?

A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene.

Recurrent missense mutations at the first and second base of codon Arg<sup>243</sup> in human lipoprotein lipase in patients of different ancestries.

Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent.

Enzymatic amplification of synthetic oligodeoxyribonucleotides: Implications for triplet repeat expansions in the human genome.

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome.

Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma.

Reverse dot blot probes for the screening of β-thalassernia mutationsin Asians and American blacks.

Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families.

A novel δ<sup>º</sup>-Thalassemia mutation: TGG→TAG (TRP→STOP) at codon 37.

A new mtDNA mutation in the tRNA<sup>Leu(UUR)</sup> gene associated with maternally inherited cardiomyopathy.

Mutations causing gaucher disease.

Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.

Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy.

Linkage disequilibrium across the fibrinogen locus as shown by five genetic polymorphisms, G/A <sup>−455</sup> ( HaeIII), C/T <sup>−148</sup> ( HindIII/ AluI), T/G<sup>+1689</sup> ( AvaII), and BclI (β-fibrinogen) and TaqI (α-fibrinogen), and their detection by PCR