Works matching IS 10597794 AND DT 2001 AND VI 18 AND IP 1

Results: 14

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 52, doi. 10.1002/humu.1149

By:

Dvoráková, L.;
Štorkánová, G.;
Unterrainer, G.;
Hujová, J.;
Kmoch, S.;
Zeman, J.;
Hrebícek, M.;
Berger, J.

Publication type:

Article

Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 70, doi. 10.1002/humu.1151

By:

Feriotto, Giordana;
Ferlini, Alessandra;
Ravani, Anna;
Calzolari, Elisa;
Mischiati, Carlo;
Bianchi, Nicoletta;
Gambari, Roberto

Publication type:

Article

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 1, doi. 10.1002/humu.1144

By:

Weller, Sabine;
Gärtner, Jutta

Publication type:

Article

Molecular analysis of Bruton's tyrosine kinase gene in Spain.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 84, doi. 10.1002/humu.1155

By:

Rodríguez, Ma Cruz García;
Granados, Eduardo López;
Cerdán, Antonio Ferreira;
Casariego, Gumersindo Fontán

Publication type:

Article

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 83, doi. 10.1002/humu.1154

By:

Taillandier, A.;
Lia-Baldini, A.S.;
Mouchard, M.;
Robin, B.;
Muller, F.;
Simon-Bouy, B.;
Serre, J.L.;
Bera-Louville, A.;
Bonduelle, M.;
Eckhardt, J.;
Gaillard, D.;
Myhre, A.G.;
Körtge-Jung, S.;
Larget-Piet, L.;
Malou, E.;
Sillence, D.;
Temple, I.K.;
Viot, G.;
Mornet, E.

Publication type:

Article

Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect?

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 61, doi. 10.1002/humu.1150

By:

Ennis, Sarah;
Murray, Anna;
Morton, Newton E.

Publication type:

Article

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 32, doi. 10.1002/humu.1147

By:

Mostacciuolo, M.L.;
Righetti, E.;
Zortea, M.;
Bosello, V.;
Schiavon, F.;
Vallo, L.;
Merlini, L.;
Siciliano, G.;
Fabrizi, G.M.;
Rizzuto, N.;
Milani, M.;
Baratta, S.;
Taroni, F.

Publication type:

Article

Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 83, doi. 10.1002/humu.1153

By:

Liu, Tze-Tze;
Chang, Yu-Hsin;
Chiang, Szu-Hui;
Yang, Yan-Ling;
Yu, Wei-Min;
Hsiao, Kwang-Jen

Publication type:

Article

Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 42, doi. 10.1002/humu.1148

By:

Lin, Doris;
Goldstein, Jayne A.;
Mhatre, Anand N.;
Lustig, Lawrence R.;
Pfister, Markus;
Lalwani, Anil K.

Publication type:

Article

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 85, doi. 10.1002/humu.1157

By:

Meloni, Ilaria;
Rubegni, Pietro;
De Aloe, Giovambattista;
Bruttini, Mirella;
Pianigiani, Elisa;
Cusano, Roberto;
Seri, Marco;
Mondillo, Sergio;
Federico, Antonio;
Bardelli, Anna Maria;
Andreassi, Lucio;
Fimiani, Michele;
Renieri, Alessandra

Publication type:

Article

Mutations of the human polycystic kidney disease 2 (PKD2) gene.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 13, doi. 10.1002/humu.1145

By:

Deltas, C. Constantinou

Publication type:

Article

Pattern of connexin 26 ( GJB2) mutations causing sensorineural hearing impairment in Ghana.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 84, doi. 10.1002/humu.1156

By:

Hamelmann, Christoph;
Amedofu, Geoffrey K.;
Albrecht, Katrin;
Muntau, Birgit;
Gelhaus, Annette;
Brobby, George W.;
Horstmann, Rolf D.

Publication type:

Article

Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populations.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 25, doi. 10.1002/humu.1146

By:

Killian, J. Keith;
Oka, Yoshihiko;
Jang, Hong-Seok;
Fu, Xialong;
Waterland, Robert A.;
Sohda, Tetsuro;
Sakaguchi, Seigo;
Jirtle, Randy L.

Publication type:

Article

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.

Published in:

Human Mutation, 2001, v. 18, n. 1, p. 82, doi. 10.1002/humu.1152

By:

Rossi, Antonio;
Superi-Furga, Andrea

Publication type:

Article