Works matching IS 10597794 AND DT 1996 AND VI 7 AND IP 1

Results: 18

Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 65, doi. 10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q

By:

Ida, Hiroyuki;
Rennert, Owen M.;
Maekawa, Kihei;
Eto, Yoshikatsu

Publication type:

Article

Mutation analysis in 20 patients with Hunter disease.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 76, doi. 10.1002/(SICI)1098-1004(1996)7:1<76::AID-HUMU14>3.0.CO;2-P

By:

Goldenfum, Sandra Leistner;
Young, Elisabeth;
Michelakakis, Helen;
Tsagarakis, S.;
Winchester, Bryan

Publication type:

Article

Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 30, doi. 10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T

By:

Asher, James H.;
Sommer, Annemarie;
Morell, Robert;
Friedman, Thomas B.

Publication type:

Article

A novel G499D substitution in the α1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 59, doi. 10.1002/(SICI)1098-1004(1996)7:1<59::AID-HUMU8>3.0.CO;2-K

By:

McGrory, Joel;
Costa, Teresa;
Cole, William G.

Publication type:

Article

Nonsense mutations in a Becker muscular dystrophy and an intermediate patient.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 72, doi. 10.1002/(SICI)1098-1004(1996)7:1<72::AID-HUMU13>3.0.CO;2-P

By:

Prior, Thomas W.;
Bartolo, Claire;
Papp, Audrey C.;
Snyder, Pamela J.;
Sedra, Mary S.;
Burghes, Arthur H.M.;
Mendell, Jerry R.

Publication type:

Article

Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 85, doi. 10.1002/(SICI)1098-1004(1996)7:1<85::AID-HUMU17>3.0.CO;2-O

By:

Robinson, Peter N.;
Buske, Annegret;
Neumann, Regina;
Tinschert, Sigrid;
Nürnberg, Peter

Publication type:

Article

Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 23, doi. 10.1002/(SICI)1098-1004(1996)7:1<23::AID-HUMU3>3.0.CO;2-Q

By:

Yamagishi, Atsushi;
Tomatsu, Shunji;
Fukuda, Seiji;
Uchiyama, Atsushi;
Shimozawa, Nobuyuki;
Suzuki, Yasuyuki;
Kondo, Naomi;
Sukegawa, Kazuko;
Orii, Tadao

Publication type:

Article

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 52, doi. 10.1002/(SICI)1098-1004(1996)7:1<52::AID-HUMU7>3.0.CO;2-R

By:

Aral, Bernard;
de Saint Basile, Geneviève;
Al-Garawi, Sami;
Kamoun, Pierre;
Ceballos-Picot, Irène

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1996, v. 7, n. 1, p. fmi, doi. 10.1002/humu.1380070101
Publication type:: Article

A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 70, doi. 10.1002/(SICI)1098-1004(1996)7:1<70::AID-HUMU12>3.0.CO;2-P

By:

Sundvold, Hilde;
Solberg, Kari;
Tonstad, Serena;
Rødningen, Olaug K.;
Ose, Leiv;
Berg, Kåre;
Leren, Trond P.

Publication type:

Article

An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 82, doi. 10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O

By:

Jensen, L.G.;
Jensen, H. K.;
Nissen, H.;
Kristiansen, K.;
Færgeman, O.;
Bolund, L.;
Gregersen, N.

Publication type:

Article

Molecular genetics of human antithrombin deficiency.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 7, doi. 10.1002/(SICI)1098-1004(1996)7:1<7::AID-HUMU2>3.0.CO;2-B

By:

Perry, David J.;
Carrell, Robin W.

Publication type:

Article

Mutation analysis of the pyruvate dehydrogenase E<sub>1</sub>α gene in eight patients with a pyruvate dehydrogenase complex deficiency.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 46, doi. 10.1002/(SICI)1098-1004(1996)7:1<46::AID-HUMU6>3.0.CO;2-N

By:

Lissens, Willy;
De Meirleir, Linda;
Seneca, Sara;
Benelli, Chantal;
Marsac, Cécile;
Poll-The, Bwee Tien;
Briones, Paz;
Ruitenbeek, Wim;
van Diggelen, Otto;
Chaigne, Denis;
Ramaekers, Vincent;
Liebaers, Ingeborg

Publication type:

Article

Identification of a novel single base insertion in the adenomatous polyposis coli gene.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 68, doi. 10.1002/(SICI)1098-1004(1996)7:1<68::AID-HUMU11>3.0.CO;2-Q

By:

Kotze, Maritha J.;
Grobbelaar, Johanna J.;
Madden, Micheal V.

Publication type:

Article

New point mutation (R243W) in the hormone binding domain of the c-erbA β1 gene in a family with generalized resistance to thyroid hormone.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 79, doi. 10.1002/(SICI)1098-1004(1996)7:1<79::AID-HUMU15>3.0.CO;2-P

By:

Pohlenz, Joachim;
Schönberger, Winfried;
Wemme, Heike;
Winterpacht, Andreas;
Wirth, Stefan;
Zabel, Bernhard

Publication type:

Article

Mutations in pyruvate kinase.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1996)7:1<1::AID-HUMU1>3.0.CO;2-H

By:

Beutler, Ernest;
Baronciani, Luciano

Publication type:

Article

Myelin protein zero ( MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 36, doi. 10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N

By:

Roa, Benjamin B.;
Warner, Laura E.;
Garcia, Carlos A.;
Russo, Donna;
Lovelace, Robert;
Chance, Phillip F.;
Lupski, James R.

Publication type:

Article

Chimeric probe-mediated ribonuclease protection assay for molecular diagnosis of mRNA deficiencies.

Published in:

Human Mutation, 1996, v. 7, n. 1, p. 61, doi. 10.1002/(SICI)1098-1004(1996)7:1<61::AID-HUMU9>3.0.CO;2-S

By:

Maillet, Philippe;
Delaunay, Jean;
Baklouti, Faouzi

Publication type:

Article