Works matching IS 10597794 AND DT 1993 AND VI 2 AND IP 2

Results: 19

Masthead.

Published in:: Human Mutation, 1993, v. 2, n. 2, p. fmi, doi. 10.1002/humu.1380020201
Publication type:: Article

Screening for molecular pathologies in Lesch-Nyhan syndrome.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 127, doi. 10.1002/humu.1380020212

By:

Boyd, Marie;
Lanyon, W. George;
Connor, J. Michael

Publication type:

Article

Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 85, doi. 10.1002/humu.1380020205

By:

Grompe, Markus;
Al-Dhalimy, Muhsen

Publication type:

Article

Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 145, doi. 10.1002/humu.1380020216

By:

Loux, N.;
Saint-Jore, B.;
Collod, G.;
Benlian, P.;
Cambou, J. P.;
Denat, M.;
Junien, C.;
Boileau, C.

Publication type:

Article

Detection of K- ras mutation in sputum by mutant-allele-specific amplification (MASA).

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 112, doi. 10.1002/humu.1380020209

By:

Takeda, Satoshi;
Ichii, Shigetoshi;
Nakamura, Yusuke

Publication type:

Article

A method to isolate DNA from small archival tissue samples for p53 gene analysis.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 123, doi. 10.1002/humu.1380020211

By:

Schubert, Elizabeth L.;
Bischoff, Farideh Z.;
Whitaker, Laura L.;
Pleasants, Lisa M.;
Hansen, Marc F.

Publication type:

Article

Advances in DNA sequencing technology.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 82, doi. 10.1002/humu.1380020204

By:

Dovichi, Norman J.

Publication type:

Article

Mutation in Scheie syndrome (MPS IS): A G→A transition creates new splice site in intron 5 of one IDUA allele.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 141, doi. 10.1002/humu.1380020215

By:

Moskowitz, Samuel M.;
Tieu, Phuong T.;
Neufeld, Elizabeth F.

Publication type:

Article

Fabry disease: Detection of gene rearrangements in the human α-Galactosidase A Gene by Multiplex PCR Amplification.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 108, doi. 10.1002/humu.1380020208

By:

Kornreich, Ruth;
Desnick, Robert J.

Publication type:

Article

Sporadic alleles, including a novel mutation, characterize β-thalassemia in ashkenazi jews.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 155, doi. 10.1002/humu.1380020219

By:

Oppenheim, Ariella;
Oron, Varda;
Filon, Dvora;
Fearon, Clare C.;
Rachmilewitz, Eliezer A.;
Kazazian, Haig H.;
Rund, Deborah

Publication type:

Article

Detection of polymorphisms using thermal cycling with a single oligonucleotide on a DNA sequencing gel.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 118, doi. 10.1002/humu.1380020210

By:

Murray, Vincent;
Monchawin, Chutima;
Cairns, Murray J.;
England, Phillip R.;
Leigh, Don;
McDonald, Brian L.

Publication type:

Article

Second International Symposium on the Marfan Syndrome, November 7-9, 1992, San Francisco, CA.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 80, doi. 10.1002/humu.1380020203

By:

Byers, Peter H.

Publication type:

Article

Hunter syndrome: Gene deletions and rearrangements.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 138, doi. 10.1002/humu.1380020214

By:

Froissart, Roseline;
Blond, Jean-Luc;
Maire, Irene;
Guibaud, Pierre;
Hopwood, John J.;
Mathieu, Monique;
Bozon, Dominique

Publication type:

Article

Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 103, doi. 10.1002/humu.1380020207

By:

Green, P. M.;
Mitchell, V. E.;
McGraw, A.;
Goldman, E.;
Giannelli, F.

Publication type:

Article

The spectrum of β-thalassemia mutations in Azerbaijan.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 152, doi. 10.1002/humu.1380020218

By:

Tagiev, A. F.;
Surin, V. L.;
Gol'tsov, A. A.;
Lukianenko, A. V.;
Solovyev, G. Ya.;
Gulieva, E. A.;
Plutalov, O. V.;
Kaboev, O. K.;
Mamedova, T. A.;
Dadasheva, T. S.;
Rustamov, R. Sh.;
Schwartz, E. I.;
Berlin, Yu. A.

Publication type:

Article

Editorial.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 79, doi. 10.1002/humu.1380020202

By:

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

Publication type:

Article

Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 131, doi. 10.1002/humu.1380020213

By:

Wood, Nigel;
Tyfield, Linda;
Bidwell, Jeffrey

Publication type:

Article

Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 94, doi. 10.1002/humu.1380020206

By:

Dong, Wei;
Ryynänen, Markku;
Uitto, Jouni

Publication type:

Article

An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.

Published in:

Human Mutation, 1993, v. 2, n. 2, p. 148, doi. 10.1002/humu.1380020217

By:

Smit, Lisa S.;
Nasr, Samya Z.;
Iannuzzi, Michael C.;
Collins, Francis S.

Publication type:

Article