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

Results: 11

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
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
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
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
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
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
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
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