Works matching IS 10597794 AND DT 2001 AND VI 17 AND IP 3

Results: 18

A new human mtDNA polymorphism: MTND6: 14562 (C→T).

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 238, doi. 10.1002/humu.16

By:

Cittadella, R.;
Andreoli, V.;
Manna, I.;
Oliveri, R.L.;
Quattrone, A.

Publication type:

Article

An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD).

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 220, doi. 10.1002/humu.7

By:

Edwards, S.M.;
Kote-Jarai, Z.;
Hamoudi, R.;
Eeles, R.A.

Publication type:

Article

Mutations in the human DHCR7 gene.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 172, doi. 10.1002/humu.2

By:

Witsch-Baumgartner, Martina;
Löffler, Judith;
Utermann, Gerd

Publication type:

Article

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 183, doi. 10.1002/humu.3

By:

Laccone, F.;
Huppke, P.;
Hanefeld, F.;
Meins, M.

Publication type:

Article

Molecular analysis of acid ceramidase deficiency in patients with Farber disease.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 199, doi. 10.1002/humu.5

By:

Bär, Julia;
Linke, Thomas;
Ferlinz, Klaus;
Neumann, Ulrich;
Schuchman, Edward H.;
Sandhoff, Konrad

Publication type:

Article

Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 210, doi. 10.1002/humu.6

By:

Nickerson, Michael L.;
Warren, Michelle B.;
Zbar, Berton;
Schmidt, Laura S.

Publication type:

Article

Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: Additional information for mutational screening.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 237, doi. 10.1002/humu.12

By:

Asteria, C.;
Faglia, G.;
Roncoroni, R.;
Borretta, G.;
Ribotto, P.;
Beck-Peccoz, P.

Publication type:

Article

Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 237, doi. 10.1002/humu.13

By:

Wu, Mei-Chen;
Wu, Jer-Yuarn;
Lee, Cheng-Chun;
Tsai, Chang-Hai;
Tsai, Fuu-Jen

Publication type:

Article

Hypervariable area in the 5′ flanking region of GSTP1, previously reported as a minisatellite ATAAA repeat.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 238, doi. 10.1002/humu.17

By:

Kristensen, Vessela N.;
Børresen-Dale, Anne-Lise;
Kristensen, Tom

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. 17, n. 3, p. 159, doi. 10.1002/humu.1

By:

Rossi, Antonio;
Superti-Furga, Andrea

Publication type:

Article

Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 191, doi. 10.1002/humu.4

By:

Martínez-Arias, Rosa;
Comas, David;
Mateu, Eva;
Bertranpetit, Jaume

Publication type:

Article

Low level mosaicism detectable by DHPLC but not by direct sequencing.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 233, doi. 10.1002/humu.8

By:

Jones, Alistair C.;
Sampson, Julian R.;
Cheadle, Jeremy P.

Publication type:

Article

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 238, doi. 10.1002/humu.15

By:

Rueffert, H.;
Kraus, H.;
Olthoff, D.;
Deutrich, C.;
Froster, U.G.

Publication type:

Article

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 235, doi. 10.1002/humu.9

By:

Marchant, D.;
Gogat, K.;
Boutboul, S.;
Péquignot, M.;
Sternberg, C.;
Dureau, P.;
Roche, O.;
Uteza, Y.;
Hache, J.C.;
Puech, B.;
Puech, V.;
Dumur, V.;
Mouillon, M.;
Munier, F.L.;
Schorderet, D.F.;
Marsac, C.;
Dufier, J.L.;
Abitbol, M.

Publication type:

Article

Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changes.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 235, doi. 10.1002/humu.10

By:

Nakagawa, Toshimasa;
Ikemoto, Toshiyuki;
Takeuchi, Tohru;
Tanaka, Keitaro;
Tanigawa, Nobuhiko;
Yamamoto, Daisuke;
Shimizu, Akira

Publication type:

Article

Exonic SNPs at positions 220 (A/G) and 445 (C/T) of the peripheral myelin protein 2 (PMP2).

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 237, doi. 10.1002/humu.11

By:

Besançon, Roger;
Latour, Philippe;
Lara, Konecny;
Laetitia, Boutrand;
Mularoni, Angélique;
Chamba, Geneviève;
Vandenberghe, Antoon

Publication type:

Article

Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 238, doi. 10.1002/humu.14

By:

Wu, Jer-Yuarn;
Wu, Mei-Chen;
Lee, Chen-Chun;
Tsai, Fuu-Jen

Publication type:

Article

A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 239, doi. 10.1002/humu.18

By:

Sironi, M.;
Corti, S.;
Locatelli, F.;
Cagliani, R.;
Comi, G.P.

Publication type:

Article