Works matching IS 10597794 AND DT 1995 AND VI 6 AND IP 3

Results: 21

Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 226, doi. 10.1002/humu.1380060305

By:

Jensen, Thomas G.;
Bross, Peter;
Andresen, Brage S.;
Lund, Tommy B.;
Kristensen, Thomas J.;
Jensen, Uffe B.;
Winther, Vibeke;
Kølvraa, Steen;
Gregersen, Niels;
Bolund, Lars

Publication type:

Article

Two intronic mutations in the adrenoleukodystrophy gene.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 272, doi. 10.1002/humu.1380060316

By:

Kemp, Stephan;
Ligtenberg, Marjolijn J. L.;
van Geel, Björn M.;
Barth, Peter G.;
Sarde, Claude-Olivier;
van Oost, Bernard A.;
Bolhuis, Pieter A.

Publication type:

Article

Mutations Ivs4nt1, 47delCT, and G148S identified in the phenylalanine hydroxylase gene by RT-PCR of illegitimate transcripts and chemical cleavage of mismatch.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 250, doi. 10.1002/humu.1380060309

By:

Ramus, Susan J.;
Cotton, Richard G. H.

Publication type:

Article

Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 254, doi. 10.1002/humu.1380060311

By:

Ward, Alana J.;
O'Kane, Maurice;
Young, Ian;
Nicholls, D. Paul;
Nevin, Norman C.;
Graham, Colin A.

Publication type:

Article

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 219, doi. 10.1002/humu.1380060304

By:

Varon, Raymonda;
Stuhrmann, Manfred;
Macek, Milan;
Kufardjieva, Annie;
Angelicheva, Dora;
Magdorf, Klaus;
Jordanova, Albena;
Savov, Alexey;
Wahn, Ulrich;
Lalov, Vesselin;
Ivanova, Tanya;
Ellemunter, Helmut;
Vavrova, Vera;
Ferak, Vladimir;
Kayserova, Hana;
Reis, André;
Kalaydjieva, Luba

Publication type:

Article

A 931 + 2T → C transition in one COL1A2 allele causes exon 16 skipping in PROα2(I) mRNA and produces moderately severe OI.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 268, doi. 10.1002/humu.1380060315

By:

Zolezzi, Francesca;
Forlino, Antonella;
Mottes, Monica;
Valli, Maurizia;
Sensi, Alberto;
Calzolari, Elisa;
Pignatti, Pier Franco;
Cetta, Giuseppe

Publication type:

Article

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 247, doi. 10.1002/humu.1380060308

By:

Dianzani, Irma;
Knappskog, Per M.;
de Sanctis, Luisa;
Giannattasio, Sergio;
Riva, Enrica;
Ponzone, Alberto;
Apold, Jaran;
Camaschella, Clara

Publication type:

Article

Novel missense mutation S108F in exon 4 of the CFTR gene.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 278, doi. 10.1002/humu.1380060319

By:

Seydewitz, H. H.;
Müller, H.;
Witt, I.

Publication type:

Article

Novel seventeen basepair deletion in exon 3 of the β-globin gene.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 252, doi. 10.1002/humu.1380060310

By:

Waye, John S.;
Eng, Barry;
Francombe, William H.;
Chui, David H. K.

Publication type:

Article

A novel mutation in the CFTR gene: I506T in exon 10.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 279, doi. 10.1002/humu.1380060321

By:

Desgeorges, Marie;
Romey, Marie-Catherine;
Coubes, Christine;
Demaille, Jacques;
Claustres, Mireille

Publication type:

Article

Molecular basis of hereditary fructose intolerance: Mutations and polymorphisms in the human aldolase B gene.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 210, doi. 10.1002/humu.1380060303

By:

Tolan, Dean R.

Publication type:

Article

Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 263, doi. 10.1002/humu.1380060314

By:

Koike, Ryoko;
Onodera, Osamu;
Tabe, Hiroyuki;
Kaneko, Kiyotoshi;
Miyatake, Tadashi;
Iwasaki, Shinichi;
Nakano, Misa;
Shizuma, Nami;
Ikeguchi, Kunihiko;
Nishizawa, Masatoyo;
Mosser, Jean;
Sarde, Claude-Olivier;
Tsuji, Shoji

Publication type:

Article

Rapid restriction fragment analysis for screening four point mutations of the Low-density lipoprotein receptor gene in French Canadians.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 243, doi. 10.1002/humu.1380060307

By:

Vohl, Marie-Claude;
Couture, Patrick;
Moorjani, Sital;
Torres, Ana L.;
Gagné, Claude;
Després, Jean-Pierre;
Lupien, Paul- J.;
Labrie, Fernand;
Simard, Jacques

Publication type:

Article

Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease).

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 276, doi. 10.1002/humu.1380060318

By:

Tsujino, Seiichi;
Shanske, Sara;
Martinuzzi, Andrea;
Heiman-Patterson, Terry;
DiMauro, Salvatore

Publication type:

Article

A frameshift mutation in codon 10 of the β-globin gene.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 278, doi. 10.1002/humu.1380060320

By:

Filon, Dvora;
Oron, Varda;
Shneor, Yona;
Rund, Deborah;
Oppenheim, Ariella

Publication type:

Article

Molecular genetics of the glycophorin gene family, the antigens for MNSs blood groups: Multiple gene rearrangements and modulation of splice site usage result in extensive diversification.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 199, doi. 10.1002/humu.1380060302

By:

Blumenfeld, Olga O.;
Huang, Cheng-Han

Publication type:

Article

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset sandhoff disease.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 260, doi. 10.1002/humu.1380060313

By:

Gomez-Lira, Macarena;
Perusi, Chiara;
Brutti, Nadia;
Farnetani, M. Angela;
Margollicci, M. Antonietta;
Rizzuto, Nicolò;
Pignatti, Pier Franco;
Salviati, Alessandro

Publication type:

Article

Allele-specific associated polymorphism analysis: Novel modification of SSCP for mutation detection in heterozygous alleles using the paradigm of resistance to thyroid hormone.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 232, doi. 10.1002/humu.1380060306

By:

Grace, Marcy B.;
Buzard, Gregory S.;
Weintraub, Bruce D.

Publication type:

Article

A novel mutation (P316L) in a female with pyruvate dehydrogenase E1α deficiency.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 274, doi. 10.1002/humu.1380060317

By:

Takakubo, Fumie;
Thorburn, David R.;
Brown, Ruth M.;
Brown, Garry K.;
Dahl, Hans-Henrik M.

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1995, v. 6, n. 3, p. fmi, doi. 10.1002/humu.1380060301
Publication type:: Article

Missense mutation (Arg121Trp) in the norrie disease gene associated with X-linked exudative vitreoretinopathy.

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 257, doi. 10.1002/humu.1380060312

By:

Fuchs, Sigrid;
Kellner, Ulrich;
Wedemann, Heike;
Gal, Andreas

Publication type:

Article