Works matching IS 10597794 AND DT 1996 AND VI 7 AND IP 2

Results: 26

A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 183, doi. 10.1002/(SICI)1098-1004(1996)7:2<183::AID-HUMU20>3.0.CO;2-Y

By:

Wagner, Klaus;
Schneditz, Petra;
Rosenkranz, Walter

Publication type:

Article

A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 164, doi. 10.1002/(SICI)1098-1004(1996)7:2<164::AID-HUMU13>3.0.CO;2-0

By:

Cocco, Sandro;
Meloni, Antonella;
Marini, Maria Giuseppina;
Cao, Antonio;
Moi, Paolo

Publication type:

Article

Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 180, doi. 10.1002/(SICI)1098-1004(1996)7:2<180::AID-HUMU17>3.0.CO;2-Z

By:

Borrego, Salud;
Sánchez, Beatriz;
Ruiz, Agustín;
Antiñolo, Guillermo

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1996, v. 7, n. 2, p. fmi, doi. 10.1002/humu.1380070201
Publication type:: Article

Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 109, doi. 10.1002/(SICI)1098-1004(1996)7:2<109::AID-HUMU4>3.0.CO;2-7

By:

Audrézet, M.-P.;
Robaszkiewicz, M.;
Mercier, B.;
Nousbaum, J.-B.;
Hardy, E.;
Bail, J.-P.;
Volant, A.;
Lozac'h, P.;
Gouérou, H.;
Férec, C.

Publication type:

Article

Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: Detection of new mouse and human expressed polymorphisms.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 144, doi. 10.1002/(SICI)1098-1004(1996)7:2<144::AID-HUMU8>3.0.CO;2-C

By:

Nakao, Mitsuyoshi;
Sutcliffe, James S.;
Beaudet, Arthur L.

Publication type:

Article

Identification of a mutation in the mitochondrial tRNA<sup>Cys</sup> gene associated with mitochondrial encephalopathy.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 158, doi. 10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1

By:

Manfredi, Giovanni;
Schon, Eric A.;
Bonilla, Eduardo;
Moraes, Carlos T.;
Shanske, Sara;
DiMauro, Salvatore

Publication type:

Article

Two novel (R(−11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 176, doi. 10.1002/(SICI)1098-1004(1996)7:2<176::AID-HUMU16>3.0.CO;2-#

By:

Ireland, Helen A.;
Boisclair, Michael D.;
Taylor, Julia;
Thompson, Elizabeth;
Thein, Swee Lay;
Girolami, Antonio;
De Caterina, Maurizio;
Scopacasa, Francesco;
De Stefano, Valerio;
Leone, Giuseppe;
Finazzi, Guido;
Cohen, Hannah;
Lane, David A.

Publication type:

Article

Two New Nonsense mutations (Q80X; Q389X) in patients with severe hunter syndrome ( mucopolysaccharidosis type II).

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 184, doi. 10.1002/humu.1380070204

By:

Carrozzo, Romeo;
Tonlorenzi, Rossana;
Corsolini, Fabio;
Gatti, Rosanna

Publication type:

Article

Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 105, doi. 10.1002/(SICI)1098-1004(1996)7:2<105::AID-HUMU3>3.0.CO;2-B

By:

Braun, Andreas;
Kammerer, Stefan;
Ambach, Helmut;
Roscher, Adelbert A.

Publication type:

Article

Mass allele detection (MAD) of rare 5-HT<sub>1A</sub> structural variants with allele-specific amplification and electrochemiluminescent detection.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(1996)7:2<135::AID-HUMU7>3.0.CO;2-B

By:

Bergen, Andrew;
Wang, Chang-Yu;
Nakhai, Bita;
Goldman, David

Publication type:

Article

A newly identified aldolase B splicing mutation (G→C, 5′ intron 5) in hereditary fructose intolerance from New Zealand.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 155, doi. 10.1002/(SICI)1098-1004(1996)7:2<155::AID-HUMU11>3.0.CO;2-1

By:

Ali, Manir;
James, Carolyn L.;
Cox, Timothy M.

Publication type:

Article

Identification of two sporadically derived mutations in the Von Hippel-Lindau gene.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 185, doi. 10.1002/(SICI)1098-1004(1996)7:2<185::AID-HUMU22>3.0.CO;2-Y

By:

Martin, Roger L.;
Walpole, Ian;
Goldblatt, Jack

Publication type:

Article

Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 172, doi. 10.1002/(SICI)1098-1004(1996)7:2<172::AID-HUMU15>3.0.CO;2-#

By:

Perrin, G.;
Morris, M.A.;
Antonarakis, S.E.;
Boltshauser, E.;
Hutter, P.

Publication type:

Article

A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 182, doi. 10.1002/(SICI)1098-1004(1996)7:2<182::AID-HUMU19>3.0.CO;2-Z

By:

Bienvenu, Thierry;
Hubert, Dominique;
Setbon, Eric;
Dusser, Daniel;
Kaplan, Jean-Claude;
Beldjord, Cherif

Publication type:

Article

A 66-Basepair insertion in Exon 6 of the α- L-fucosidase gene of a fucosidosis patient;.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 183, doi. 10.1002/humu.1380070203

By:

Seo, Hee Chan;
Yang, Meiheng;
Kim, Alex H.;
O'Brien, John S.;
Dicioccio, Richard A.;
Gordon, Bruce A.

Publication type:

Article

Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 100, doi. 10.1002/(SICI)1098-1004(1996)7:2<100::AID-HUMU2>3.0.CO;2-G

By:

Peacock, Michael L.;
Borst, Marilyn J.;
Sweet, Jason D.;
Decker, Ruth A.

Publication type:

Article

Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 123, doi. 10.1002/(SICI)1098-1004(1996)7:2<123::AID-HUMU6>3.0.CO;2-D

By:

Fukuda, Seiji;
Tomatsu, Shunji;
Masuno, Mitsuo;
Ogawa, Tatsuya;
Yamagishi, Atsushi;
Maruf Rezvi, Golam Md.;
Sukegawa, Kazuko;
Shimozawa, Nobuyuki;
Suzuki, Yasuyuki;
Kondo, Naomi;
Imaizumi, Kiyoshi;
Kuroki, Yoshikazu;
Okabe, Takahiro;
Orii, Tadao

Publication type:

Article

Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 151, doi. 10.1002/(SICI)1098-1004(1996)7:2<151::AID-HUMU10>3.0.CO;2-1

By:

Nasr, Samya Z.;
Strong, Theresa V.;
Mansoura, Monique K.;
Dawson, David C.;
Collins, Francis S.

Publication type:

Article

Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency: HPRT Heidelberg.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 184, doi. 10.1002/(SICI)1098-1004(1996)7:2<184::AID-HUMU21>3.0.CO;2-Y

By:

Gathof, Birgit S.;
Geissler, Jan;
Wingen, Anne M.;
Gresser, Ursula

Publication type:

Article

Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 167, doi. 10.1002/(SICI)1098-1004(1996)7:2<167::AID-HUMU14>3.0.CO;2-0

By:

Tan, Charles C.;
Ainsworth, Peter J.;
Hahn, Angelika F.;
MacLeod, Patrick M.

Publication type:

Article

A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 181, doi. 10.1002/(SICI)1098-1004(1996)7:2<181::AID-HUMU18>3.0.CO;2-Z

By:

David, Dezsö;
Orth, Ulrike;
Heilbronner, Helmut;
Gal, Andreas

Publication type:

Article

A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 180, doi. 10.1002/humu.1380070202

By:

Sánchez, Beatriz;
Borrego, Salud;
Chaparro, Pedro;
Rueda, Trinidad;
López, Francisca;
Antiñolo, Guillermo

Publication type:

Article

Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 89, doi. 10.1002/(SICI)1098-1004(1996)7:2<89::AID-HUMU1>3.0.CO;2-K

By:

Zhuang, Jiapiao;
Tromp, Gerard;
Kuivaniemi, Helena;
Castells, Salvador;
Bugge, Merete;
Prockop, Darwin J.

Publication type:

Article

Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 114, doi. 10.1002/(SICI)1098-1004(1996)7:2<114::AID-HUMU5>3.0.CO;2-C

By:

Harteveld, Kees L.;
Heister, Angelien J.G.A.M.;
Giordano, Piero C.;
Losekoot, Monique;
Bernini, Luigi F.

Publication type:

Article

Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked alport syndrome.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 149, doi. 10.1002/(SICI)1098-1004(1996)7:2<149::AID-HUMU9>3.0.CO;2-7

By:

Tverskaya, Svetlana;
Bobrynina, Vlasta;
Tsalykova, Fatima;
Ignatova, Maya;
Krasnopolskaya, Xenia;
Evgrafov, Oleg

Publication type:

Article