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

Results: 31

A novel deletion in exon 15 of the adenomatous polyposis coli gene in an Italian kindred.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 301, doi. 10.1002/humu.1380030320

By:

Cama, Alessandro;
Palmirotta, Raffaele;
Esposito, Diana;
Curia, Maria Cristina;
Ranieri, Annalisa;
Ficari, Ferdinando;
Valanzano, Rosa;
Battista, Pasquale;
Frati, Luigi;
Tonelli, Francesco;
Mariani-Costantini, Renato

Publication type:

Article

Erratum.

Published in:: Human Mutation, 1994, v. 3, n. 3, p. 337, doi. 10.1002/humu.1380030331
Publication type:: Article

Editorial.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 171, doi. 10.1002/humu.1380030302

By:

Cotton, R. G. H.;
Kazazian, Haig H.

Publication type:

Article

A double-variant transthyretin allele (SER 6, ILE 33) in the Israeli patient 'SKO' with familial amyloidotic polyneuropathy.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 254, doi. 10.1002/humu.1380030313

By:

Jacobson, Daniel R.;
Buxbaum, Joel N.

Publication type:

Article

Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 315, doi. 10.1002/humu.1380030324

By:

Sahota, Amrik;
Chen, Ju;
Bye, Steven;
Jaing, James;
Berenyi, M.;
Fekete, Gyorgy;
Tischfield, Jay A.

Publication type:

Article

Mutations in PAX3 associated with waardenburg syndrome type I.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 205, doi. 10.1002/humu.1380030306

By:

Baldwin, Clinton T.;
Lipsky, Nina R.;
Hoth, Christopher F.;
Cohen, Tirza;
Mamuya, Wilfred;
Milunsky, Aubrey

Publication type:

Article

Loss of heterozygosity on chromosome 5 in sporadic ovarian carcinoma is a late event and is not associated with mutations in APC at 5q21-22.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 283, doi. 10.1002/humu.1380030317

By:

Allan, Gordon J.;
Cottrell, Sally;
Trowsdale, John;
Foulkes, William D.

Publication type:

Article

A cystic fibrosis patient with ΔF508, G542X and a deletion at the D7S8 locus.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 327, doi. 10.1002/humu.1380030328

By:

Wagner, Klaus;
Greil, Ignaz;
Schneditz, Petra;
Pommer, Michaela;
Rosenkranz, Walter

Publication type:

Article

A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 333, doi. 10.1002/humu.1380030330

By:

Tieu, Phuong T.;
Menon, Kaushiki;
Neufeld, Elizabeth F.

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1994, v. 3, n. 3, p. fmi, doi. 10.1002/humu.1380030301
Publication type:: Article

Allele frequency data for VNTR locus D17S79: Identification of an internal HaeIII polymorphism in the black population.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 248, doi. 10.1002/humu.1380030312

By:

Waye, John S.;
Richard, Melanie;
Carmody, George;
Newall, Pamela J.

Publication type:

Article

Phenylketonuria in China: Identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 312, doi. 10.1002/humu.1380030323

By:

Li, Jia;
Eisensmith, Randy C.;
Wang, Tao;
Lo, Wilson H. Y.;
Huang, Shu-Zhen;
Zeng, Yi-Tao;
Yuan, Li-Fang;
Liu, Shen-Ru;
Woo, Savio L. C.

Publication type:

Article

Description and functional implications of a novel mutation in the sex-determining gene SRY.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 200, doi. 10.1002/humu.1380030305

By:

Poulat, Francis;
Soullier, Stephan;
Gozé, Catherine;
Heitz, Frédéric;
Calas, Bernard;
Berta, Philippe

Publication type:

Article

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 275, doi. 10.1002/humu.1380030316

By:

Clarke, Lorne A.;
Nelson, Paul V.;
Warrington, Cara L.;
Morris, C. Phillip;
Hopwood, John J.;
Scott, Hamish S.

Publication type:

Article

Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 324, doi. 10.1002/humu.1380030327

By:

Mackay, Katrina;
De Paepe, Anne;
Nuytinck, Lieve;
Dalgleish, Raymond

Publication type:

Article

Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 231, doi. 10.1002/humu.1380030309

By:

Ravnik-Glavač, Metka;
Glavač, Damjan;
Chernick, Mila;
Sant'Agnese, Paul Di;
Dean, Michael

Publication type:

Article

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 243, doi. 10.1002/humu.1380030311

By:

Reid, Fiona M.;
Vernham, Guy A.;
Jacobs, Howard T.

Publication type:

Article

A novel β-thalassemia mutation: Frameshift at codon 59 detected in an Italian carrier.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 309, doi. 10.1002/humu.1380030322

By:

Meloni, Alessandra;
Demurtas, Maria;
Moi, Loredana;
Faà, Valeria;
Cao, Antonio;
Rosatelli, Maria Cristina

Publication type:

Article

Transcriptional regulation of gene expression: Mechanisms and pathophysiology.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 180, doi. 10.1002/humu.1380030304

By:

Semenza, Gregg L.

Publication type:

Article

Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 268, doi. 10.1002/humu.1380030315

By:

Nuytinck, Lieve;
De Paepe, Anne;
Renard, Jean-Pierre;
Adriaens, Filip;
Leroy, Jules

Publication type:

Article

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 321, doi. 10.1002/humu.1380030326

By:

Grüning, Gunnar;
Millan, José M.;
Meins, Moritz;
Beneyto, Magdalena;
Caballero, Manuel;
Apfelstedt-Sylla, Eckart;
Bosch, Rosabel;
Zrenner, Eberhart;
Prieto, Felix;
Gal, Andreas

Publication type:

Article

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14).

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 223, doi. 10.1002/humu.1380030308

By:

Chillón, Miguel;
Casals, Teresa;
Giménez, Javier;
Nunes, Virginia;
Estivill, Xavier

Publication type:

Article

Nonsense mutation in the homeobox region of the aniridia gene.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 297, doi. 10.1002/humu.1380030319

By:

Martha, Aruna Devi;
Ferrell, Robert E.;
Saunders, Grady F.

Publication type:

Article

Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 239, doi. 10.1002/humu.1380030310

By:

Hain, Richard D. W.;
Chitayat, David;
Cooper, Robert;
Bandler, Elizabeth;
Eng, Barry;
Chui, David H. K.;
Waye, John S.;
Freedman, Melvin H.

Publication type:

Article

A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 305, doi. 10.1002/humu.1380030321

By:

Cama, Alessandro;
Esposito, Diana L.;
Palmirotta, Raffaele;
Curia, Maria Cristina;
Ranieri, Annalisa;
Ficari, Ferdinando;
Valanzano, Rosa;
Modesti, Andrea;
Battista, Pasquale;
Tonelli, Francesco;
Mariani-Costantini, Renato

Publication type:

Article

Detection of point mutations by solid-phase methods.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 172, doi. 10.1002/humu.1380030303

By:

Syvänen, Ann-Christine;
Landegren, Ulf

Publication type:

Article

A single base mutation in the type II procollagen gene (COL2A1) that converts glycine α1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 261, doi. 10.1002/humu.1380030314

By:

Ritvaniemi, P.;
Sokolov, B. P.;
Williams, C. J.;
Considine, E.;
Yurgenev, L.;
Meerson, E. M.;
Ala-Kokko, L.;
Prockop, D. J.

Publication type:

Article

The ornithine transcarbamylase gene: New 'Private' mutations in four patients and study of a polymorphism.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 318, doi. 10.1002/humu.1380030325

By:

Tuchman, Mendel;
Plante, Robert J.;
Giguère, Yves;
Lemieux, Bernard

Publication type:

Article

Infrequent mutation of the WT1 gene in 77 Wilms' tumors.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 212, doi. 10.1002/humu.1380030307

By:

Gessler, M.;
König, A.;
Arden, K.;
Grundy, P.;
Orkin, S.;
Sallan, S.;
Peters, C.;
Ruyle, S.;
Mandell, J.;
Li, F.;
Cavenee, W.;
Bruns, G.

Publication type:

Article

A rapid and simple DNA fingerprinting method using RLFP and SSCP analysis of the hypervariable noncoding region of human mitochondrial DNA.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 292, doi. 10.1002/humu.1380030318

By:

Pushnova, Elena A.;
Akhmedova, Sofia N.;
Shevtsov, Sergey P.;
Schwartz, Eugene I.

Publication type:

Article

Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G.

Published in:

Human Mutation, 1994, v. 3, n. 3, p. 330, doi. 10.1002/humu.1380030329

By:

Bozon, Dominique;
Zielenski, Julian;
Rininsland, Frauke;
Tsui, Lap-Chee

Publication type:

Article