Works matching IS 10597794 AND DT 1994 AND VI 3 AND IP 4

Results: 20

Masthead.

Published in:: Human Mutation, 1994, v. 3, n. 4, p. fmi, doi. 10.1002/humu.1380030401
Publication type:: Article

A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 395, doi. 10.1002/humu.1380030412

By:

Bienvenu, T.;
Petitpretz, P.;
Beldjord, C.;
Kaplan, J. C.

Publication type:

Article

Cystic fibrosis patients from the black sea region: The 1677delTA mutation.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 353, doi. 10.1002/humu.1380030405

By:

Angelicheva, D.;
Boteva, K.;
Jordanova, A.;
Savov, A.;
Kufardjieva, A.;
Tolun, A.;
Telatar, M.;
Akarsubaşi, A.;
Köprübaşi, F.;
Aydoǧdu, S.;
Demirkol, M.;
Kurdoǧlu, G.;
Constantinou-Deltas, C. D.;
Georgiou, C.;
Dean, M.;
Ivaschenko, T.;
Baranov, V.;
Kalaydjieva, L.

Publication type:

Article

A single-base deletion mutation in a Turkish patient with fucosidosis.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 407, doi. 10.1002/humu.1380030416

By:

Seo, Hee-Chan;
Kunze, Jürgen;
Willems, Patrick J.;
Kim, Alex H.;
Hanefeld, Folker;
O'Brien, John S.

Publication type:

Article

A microtiter plate assay for determining apolipoprotein E genotype and discovery of a rare allele.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 379, doi. 10.1002/humu.1380030409

By:

Livak, Kenneth J.;
Hainer, James W.

Publication type:

Article

A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 391, doi. 10.1002/humu.1380030411

By:

Rose, Nicola J.;
Mackay, Katrina;
Byers, Peter H.;
Dalgleish, Raymond

Publication type:

Article

Two NF1 mutations: Frameshift in the GAP-related domain, and loss of two codons toward the 3′ end of the gene.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 347, doi. 10.1002/humu.1380030404

By:

Abernathy, Corinne R.;
Colman, Steven D.;
Kousseff, Boris G.;
Wallace, Margaret R.

Publication type:

Article

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 402, doi. 10.1002/humu.1380030415

By:

Matsuura, Toshinobu;
Hoshide, Ryuuji;
Kiwaki, Kohji;
Komaki, Satoru;
Koike, Emiko;
Endo, Fumio;
Oyanagi, Kazuhiko;
Suzuki, Yoshimi;
Kato, Ineko;
Ishikawa, Kaoru;
Yoda, Hitoshi;
Kamitani, Shigeki;
Sakaki, Yoshiyuki;
Matsuda, Ichiro

Publication type:

Article

Mutations in Steroid 21-Hydroxylase (CYP21).

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 373, doi. 10.1002/humu.1380030408

By:

White, Perrin C.;
Tusie-Luna, Maria-Teresa;
New, Maria I.;
Speiser, Phyllis W.

Publication type:

Article

A rapid restriction site screening method for the Pro<sup>207</sup>→Leu mutation in the lipoprotein lipase gene.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 416, doi. 10.1002/humu.1380030419

By:

Lévesque, Georges;
Julien, Pierre;
Deshaies, Yves;
Lupien, Paul J.;
Ven Murthy, M. R.

Publication type:

Article

A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 386, doi. 10.1002/humu.1380030410

By:

Peissel, Bernard;
Rossetti, Sandro;
Renieri, Alessandra;
Galli, Lucia;
De Marchi, Mario;
Battini, Graziana;
Meroni, Mietta;
Sessa, Adalberto;
Schiavano, Salvatore;
Pignatti, Pier Franco;
Turco, Alberto E.

Publication type:

Article

APC and p53 mutations in de novo colorectal adenocarcinomas.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 342, doi. 10.1002/humu.1380030403

By:

Aoki, Takahisa;
Takeda, Satoshi;
Yanagisawa, Akio;
Kato, Yo;
Ajioka, Yoichi;
Watanabe, Hidenobu;
Kudo, Shinei;
Nakamura, Yusuke

Publication type:

Article

Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 399, doi. 10.1002/humu.1380030414

By:

Jacobson, Daniel R.;
Gertz, Morie A.;
Buxbaum, Joel N.

Publication type:

Article

New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 365, doi. 10.1002/humu.1380030407

By:

Banchs, I.;
Bosch, A.;
Guimerà, J.;
Lázaro, C.;
Puig, A.;
Estivill, X.

Publication type:

Article

Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucocerebrosidase gene.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 411, doi. 10.1002/humu.1380030418

By:

Laubscher, Kevin H.;
Glew, Robert H.;
Lee, Robert E.;
Okinaka, Richard T.

Publication type:

Article

Announcement.

Published in:: Human Mutation, 1994, v. 3, n. 4, p. 418, doi. 10.1002/humu.1380030420
Publication type:: Article

The Ashkenazi Jewish Fanconi anemia mutation: Incidence among patients and carrier frequency in the at-risk population.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 339, doi. 10.1002/humu.1380030402

By:

Whitney, Michael A.;
Jakobs, Petra;
Kaback, Michael;
Moses, Robb E.;
Grompe, Markus

Publication type:

Article

A new frameshift mutation, insertion of ATCT, at codon 48 in the β-globin gene causes β-thalassemia in an Indian proband.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 397, doi. 10.1002/humu.1380030413

By:

Jain, Pawan K.;
Dozy, Andrée M.;
Verma, I. C.;
Chehab, Farid F.

Publication type:

Article

Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 358, doi. 10.1002/humu.1380030406

By:

Ho, Ken K. Y.;
Kong, Richard Y. C.;
Kuffner, Tamara;
Hsu, Louis H. S.;
Ma, Lily;
Cheah, Kathryn S. E.

Publication type:

Article

Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.

Published in:

Human Mutation, 1994, v. 3, n. 4, p. 409, doi. 10.1002/humu.1380030417

By:

Al-Maghtheh, Mai;
Inglehearn, Chris;
Lunt, Peter;
Jay, Marcelle;
Bird, Alan;
Bhattacharya, Shomi

Publication type:

Article