Works matching IS 10597794 AND DT 1996 AND VI 8 AND IP 3

Results: 23

Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 214, doi. 10.1002/(SICI)1098-1004(1996)8:3<214::AID-HUMU3>3.0.CO;2-9

By:

Boyadjiev, Simeon A.;
Sahota, Amrik;
Tischfield, Jay A.

Publication type:

Article

Erratum.

Published in:: Human Mutation, 1996, v. 8, n. 3, p. 295, doi. 10.1002/humu.1380080303
Publication type:: Article

PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 236, doi. 10.1002/(SICI)1098-1004(1996)8:3<236::AID-HUMU7>3.0.CO;2-7

By:

Knappskog, Per M.;
Eiken, Hans Geir;
Martínez, Aurora;
Bruland, Ove;
Apold, Jaran;
Flatmark, Torgeir

Publication type:

Article

Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 270, doi. 10.1002/(SICI)1098-1004(1996)8:3<270::AID-HUMU12>3.0.CO;2-#

By:

Yoshimura, Takeo;
Ohnishi, Akio;
Yamamoto, Tatsunori;
Fukushima, Yoshimitsu;
Kitani, Mitsuhiro;
Kobayashi, Takuro

Publication type:

Article

Detection of new variants in the apolipoprotein B (Apo B) gene by PCR-SSCP.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 282, doi. 10.1002/(SICI)1098-1004(1996)8:3<282::AID-HUMU16>3.0.CO;2-Z

By:

Poirier, O.;
Ricard, S.;
Behague, I.;
Souriau, C.;
Evans, A.E.;
Arveiler, D.;
Marques-Vidal, P.;
Luc, G.;
Roizes, G.;
Cambien, F.

Publication type:

Article

Glucocerebrosidase (Gaucher disease).

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 207, doi. 10.1002/(SICI)1098-1004(1996)8:3<207::AID-HUMU2>3.0.CO;2-6

By:

Beutler, Ernest;
Gelbart, Terri

Publication type:

Article

Update on nomenclature for human gene mutations.

Published in:: Human Mutation, 1996, v. 8, n. 3, p. 197, doi. 10.1002/humu.1380080302
Publication type:: Article

Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 229, doi. 10.1002/(SICI)1098-1004(1996)8:3<229::AID-HUMU6>3.0.CO;2-4

By:

Hughes, David;
Wallace, Andrew;
Taylor, Joanne;
Tassabehji, May;
McMahon, Roger;
Hill, Alison;
Nevin, Norman;
Graham, Colin

Publication type:

Article

Unequal homologous crossing over resulting in duplication of 36 base pairs within Exon 47 of the COL4A5 gene in a family with Alport syndrome.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 265, doi. 10.1002/(SICI)1098-1004(1996)8:3<265::AID-HUMU11>3.0.CO;2-0

By:

Hämäläinen, Eija-Riitta;
Renieri, Alessandra;
Pecoraro, Carmine;
De Marchi, Mario;
Pihlajaniemi, Taina

Publication type:

Article

Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 280, doi. 10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-Z

By:

Amaral, Olga;
Pinto, Eugénia;
Fortuna, Margarida;
Lacerda, Lucia;
Sá Miranda, M.C.

Publication type:

Article

New frameshift mutation, insertion of A, at codon 95 of the β-globin gene causes β-thalassemia in two Vietnamese families.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 293, doi. 10.1002/(SICI)1098-1004(1996)8:3<293::AID-HUMU19>3.0.CO;2-Y

By:

Cai, Shiping;
Chehab, Farid F.

Publication type:

Article

Phenylalanine hydroxylase deficiency in a population in Germany: Mutational profile and nine novel mutations.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 276, doi. 10.1002/(SICI)1098-1004(1996)8:3<276::AID-HUMU14>3.0.CO;2-#

By:

Guldberg, Per;
Mallmann, Rudolf;
Henriksen, Karen Friis;
Güttler, Flemming

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1996, v. 8, n. 3, p. fmi, doi. 10.1002/humu.1380080301
Publication type:: Article

Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 223, doi. 10.1002/(SICI)1098-1004(1996)8:3<223::AID-HUMU5>3.0.CO;2-A

By:

Katz, Fay;
Hinshelwood, Steve;
Rutland, Paul;
Jones, Alison;
Kinnon, Christine;
Morgan, Gareth

Publication type:

Article

Mutation analysis of phenylketonuria in South Brazil.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 262, doi. 10.1002/(SICI)1098-1004(1996)8:3<262::AID-HUMU10>3.0.CO;2-0

By:

Pérez, Belén;
Desviat, Lourdes R.;
De Lucca, Marisel;
Schmidt, Benjamin;
Loghin-Grosso, Nicole;
Giugliani, Roberto;
Pires, Ricardo F.;
Ugarte, Magdalena

Publication type:

Article

Ethnic difference in the pattern of K-ras oncogene mutations in human colorectal cancers.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 258, doi. 10.1002/(SICI)1098-1004(1996)8:3<258::AID-HUMU9>3.0.CO;2-5

By:

Hayashi, Naoko;
Sugai, Sachiko;
Ito, Isao;
Nakamori, Shoji;
Ogawa, Michio;
Nakamura, Yusuke

Publication type:

Article

Mutation nomenclature: Nicknames, systematic names, and unique identifiers.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 203, doi. 10.1002/(SICI)1098-1004(1996)8:3<203::AID-HUMU1>3.0.CO;2-A

By:

Beutler, Ernest;
McKusick, Victor A.;
Motulsky, Arno G.;
Scriver, Charles R.;
Hutchinson, Franklin

Publication type:

Article

A familial deletion in the Prader-Willi syndrome region including the imprinting control region.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 288, doi. 10.1002/(SICI)1098-1004(1996)8:3<288::AID-HUMU18>3.0.CO;2-Z

By:

Schuffenhauer, Simone;
Buchholz, Tina;
Stengel-Rutkowski, Sabine;
Buiting, Karin;
Schmidt, Heinrich;
Meitinger, Thomas

Publication type:

Article

An additional mitochondrial tRNA<sup>Ile</sup> point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 216, doi. 10.1002/(SICI)1098-1004(1996)8:3<216::AID-HUMU4>3.0.CO;2-7

By:

Merante, F.;
Myint, T.;
Tein, I.;
Benson, L.;
Robinson, B.H.

Publication type:

Article

Editorial.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. i, doi. 10.1002/humu.1380080304

By:

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

Publication type:

Article

Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: Detection of two novel mutations.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 247, doi. 10.1002/(SICI)1098-1004(1996)8:3<247::AID-HUMU8>3.0.CO;2-6

By:

Seto, Donald;
Weintraub, Bruce D.

Publication type:

Article

Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 273, doi. 10.1002/(SICI)1098-1004(1996)8:3<273::AID-HUMU13>3.0.CO;2-#

By:

Hamaguchi, Tomoya;
Nakajima, Hiromu;
Noguchi, Tamio;
Nakagawa, Chisa;
Kuwajima, Masamichi;
Kono, Norio;
Tarui, Seiichiro;
Matsuzawa, Yuji

Publication type:

Article

Identification of two new nonsense mutations Q311X and W326X in Exon 2 of the adrenoleukodystrophy (ALD) gene.

Published in:

Human Mutation, 1996, v. 8, n. 3, p. 286, doi. 10.1002/(SICI)1098-1004(1996)8:3<286::AID-HUMU17>3.0.CO;2-Z

By:

Barceló, A.;
Girós, M.;
Albiach, V.J.;
Vaquerizo, J.;
Pàmpols, T.;
Estivill, X.

Publication type:

Article