Works matching IS 10597794 AND DT 1998 AND VI 12 AND IP 4

Results: 11

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency.

Published in:

Human Mutation, 1998, v. 12, n. 4, p. 245, doi. 10.1002/(SICI)1098-1004(1998)12:4<245::AID-HUMU5>3.0.CO;2-E

By:

Fukao, Toshiyuki;
Nakamura, Haruki;
Song, Xiang-Qian;
Nakamura, Kozue;
Orii, Kenji E.;
Kohno, Yoshinori;
Kano, Masatsugu;
Yamaguchi, Seiji;
Hashimoto, Takashi;
Orii, Tadao;
Kondo, Naomi

Publication type:

Article

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.

Published in:

Human Mutation, 1998, v. 12, n. 4, p. 274, doi. 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F

By:

Montfort, Magda;
Vilageliu, Lluïsa;
Garcia-Giralt, Natàlia;
Guidi, Silvina;
Coll, Maria Josep;
Chabás, Amparo;
Grinberg, Daniel

Publication type:

Article

The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy.

Published in:

Human Mutation, 1998, v. 12, n. 4, p. 238, doi. 10.1002/(SICI)1098-1004(1998)12:4<238::AID-HUMU3>3.0.CO;2-B

By:

Ricketts, Michael H.;
Poretz, Ronald D.;
Manowitz, Paul

Publication type:

Article

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.

Published in:

Human Mutation, 1998, v. 12, n. 4, p. 267, doi. 10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.0.CO;2-C

By:

Dianzani, Irma;
de Sanctis, Luisa;
Smooker, Peter M.;
Gough, Tamara J.;
Alliaudi, Carla;
Brusco, Alfredo;
Spada, Marco;
Blau, Nenad;
Dobos, Marion;
Zhang, Hong-Ping;
Yang, Nan;
Ponzone, Alberto;
Armarego, Wilfred L. F.;
Cotton, Richard G. H.

Publication type:

Article

Mutations of the human E-cadherin ( CDH1) gene.

Published in:

Human Mutation, 1998, v. 12, n. 4, p. 226, doi. 10.1002/(SICI)1098-1004(1998)12:4<226::AID-HUMU2>3.0.CO;2-D

By:

Berx, Geert;
Becker, Karl-Friedrich;
Höfler, Heinz;
van Roy, Frans

Publication type:

Article

Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia.

Published in:

Human Mutation, 1998, v. 12, n. 4, p. 255, doi. 10.1002/(SICI)1098-1004(1998)12:4<255::AID-HUMU6>3.0.CO;2-E

By:

Mandelshtam, Mikhail;
Chakir, Khalid;
Shevtsov, Sergei;
Golubkov, Valery;
Skobeleva, Natalya;
Lipovetsky, Boris;
Konstantinov, Vladimir;
Denisenko, Alexander;
Gaitskhoki, Vladimir;
Schwartz, Eugene

Publication type:

Article

Different ocular abnormalities in individuals of a three-generation family caused by a new nonsense mutation in the PST domain of the PAX6 gene.

Published in:

Human Mutation, 1998, v. 12, n. 4, p. 288, doi. 10.1002/(SICI)1098-1004(1998)12:4<280::AID-HUMU11>3.0.CO;2-V

By:

Syagailo, Yana;
Wilke, Klaus;
Okladnova, Olga;
Eigel, Antonin;
Lemmens, Marta;
Kramarov, Vladimir;
Horst, Jürgen

Publication type:

Article

Single nucleotide polymorphism hunting in cyberspace.

Published in:

Human Mutation, 1998, v. 12, n. 4, p. 221, doi. 10.1002/(SICI)1098-1004(1998)12:4<221::AID-HUMU1>3.0.CO;2-I

By:

Gu, Zhijie;
Hillier, LaDeana;
Kwok, Pui-Yan

Publication type:

Article

A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: Mechanism of mutation and structure-function relationships.

Published in:

Human Mutation, 1998, v. 12, n. 4, p. 280, doi. 10.1002/(SICI)1098-1004(1998)12:4<280::AID-HUMU10>3.0.CO;2-V

By:

Valentin, Colette;
Birgens, Henrik;
Craescu, Constantin T.;
Brødum-Nielsen, Karen;
Cohen-Solal, Michel

Publication type:

Article

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.

Published in:

Human Mutation, 1998, v. 12, n. 4, p. 240, doi. 10.1002/(SICI)1098-1004(1998)12:4<240::AID-HUMU4>3.0.CO;2-J

By:

Horowitz, Mia;
Pasmanik-Chor, Metsada;
Borochowitz, Zvi;
Falik-Zaccai, Tzipora;
Heldmann, Keren;
Carmi, Rivka;
Parvari, Ruth;
Beit-Or, Hannah;
Goldman, Boleslav;
Peleg, Lea;
Levy-Lahad, Ephrat;
Renbaum, Paul;
Legum, Searl;
Shomrat, Ruth;
Yeger, Hannah;
Benbenisti, Dalit;
Navon, Ruth;
Dror, Vardit;
Shohat, Mordechai;
Magal, Nurit

Publication type:

Article

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

Published in:

Human Mutation, 1998, v. 12, n. 4, p. 259, doi. 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A

By:

Saugier-Veber, Pascale;
Martin, Cosette;
Le Meur, Nathalie;
Lyonnet, Stanislas;
Munnich, Arnold;
David, Albert;
Hénocq, Alain;
Héron, Delphine;
Jonveaux, Philippe;
Odent, Sylvie;
Manouvrier, Sylvie;
Moncla, Anne;
Morichon, Nicole;
Philip, Nicole;
Satge, Daniel;
Tosi, Mario;
Frébourg, T

Publication type:

Article