Works matching IS 10597794 AND DT 2004 AND VI 24 AND IP 6

Results: 17

A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a).

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 474, doi. 10.1002/humu.20101

By:

Parson, Walther;
Kraft, Hans Georg;
Niederstätter, Harald;
Lingenhel, Arnulf W.;
Köchl, Silvano;
Fresser, Friedrich;
Utermann, Gerd

Publication type:

Article

Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 534, doi. 10.1002/humu.9291

By:

Hartmann, Carolin;
John, Anika L.;
Klaes, Rüdiger;
Hofmann, Wera;
Bielen, Rainer;
Koehler, Rolf;
Janssen, Bart;
Bartram, Claus R.;
Arnold, Norbert;
Zschocke, Johannes

Publication type:

Article

LDL-receptor mutations in Europe.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 443, doi. 10.1002/humu.20105

By:

Dedoussis, George V.Z.;
Schmidt, Hartmut;
Genschel, Janine

Publication type:

Article

A novel mutation in KCNA1 causes episodic ataxia without myokymia.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 536, doi. 10.1002/humu.9295

By:

Lee, Hane;
Wang, Hui;
Jen, Joanna C.;
Sabatti, Chiara;
Baloh, Robert W.;
Nelson, Stanley F.

Publication type:

Article

High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: Implications for haplotype tagging.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 517, doi. 10.1002/humu.20100

By:

Allcock, Richard J. N.;
Windsor, Lydia;
Gut, Ivo G.;
Kucharzak, Ramon;
Sobre, Laetitia;
Lechner, Doris;
Garnier, Jean-Guillaume;
Baltic, Svetlana;
Christiansen, Frank T.;
Price, Patricia

Publication type:

Article

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 534, doi. 10.1002/humu.9290

By:

Esposito, Gabriella;
Santamaria, Rita;
Vitagliano, Luigi;
Ieno, Luigi;
Viola, Antonietta;
Fiori, Laura;
Parenti, Giancarlo;
Zancan, Lucia;
Zagari, Adriana;
Salvatore, Francesco

Publication type:

Article

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B<sub>12</sub> metabolism.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 509, doi. 10.1002/humu.20104

By:

Lerner-Ellis, Jordan P.;
Dobson, C. Melissa;
Wai, Timothy;
Watkins, David;
Tirone, Jamie C.;
Leclerc, Daniel;
Doré, Carole;
Lepage, Pierre;
Gravel, Roy A.;
Rosenblatt, David S.

Publication type:

Article

Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patients.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 535, doi. 10.1002/humu.9294

By:

Chappell, Sally;
Guetta-Baranés, Tamar;
Batowski, Kathryn;
Yiannakis, Eftihia;
Morgan, Kevin;
O'Connor, Clare;
MacNee, William;
Kalsheker, Noor

Publication type:

Article

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 491, doi. 10.1002/humu.20103

By:

Zatkova, Andrea;
Messiaen, Ludwine;
Vandenbroucke, Ina;
Wieser, Rotraud;
Fonatsch, Christa;
Krainer, Adrian R.;
Wimmer, Katharina

Publication type:

Article

A novel mutation in UDP- N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 535, doi. 10.1002/humu.9293

By:

Tiede, Stephan;
Cantz, Michael;
Raas-Rothschild, Annick;
Muschol, Nicole;
Bürger, Friederike;
Ullrich, Kurt;
Braulke, Thomas

Publication type:

Article

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 466, doi. 10.1002/humu.20095

By:

Rozeman, Leida B.;
Sangiorgi, Luca;
Bruijn, Inge H. Briaire-de;
Mainil-Varlet, Pierre;
Bertoni, F.;
Cleton-Jansen, Anne Marie;
Hogendoorn, Pancras C.W.;
Bovée, Judith V.M.G.

Publication type:

Article

Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 481, doi. 10.1002/humu.20099

By:

Yagasaki, Hiroshi;
Hamanoue, Satoshi;
Oda, Tsukasa;
Nakahata, Tatsutoshi;
Asano, Shigetaka;
Yamashita, Takayuki

Publication type:

Article

Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: Interaction with the nuclear receptor NR4A3/NOR1.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 502, doi. 10.1002/humu.20102

By:

Laflamme, Cynthia;
Filion, Christine;
Labelle, Yves

Publication type:

Article

Mutations of the Nogo-66 receptor ( RTN4R) gene in schizophrenia.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 534, doi. 10.1002/humu.9292

By:

Sinibaldi, Lorenzo;
De Luca, Alessandro;
Bellacchio, Emanuele;
Conti, Emanuela;
Pasini, Augusto;
Paloscia, Claudio;
Spalletta, Gianfranco;
Caltagirone, Carlo;
Pizzuti, Antonio;
Dallapiccola, Bruno

Publication type:

Article

Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 536, doi. 10.1002/humu.9296

By:

Georgiou, T.;
Drousiotou, A.;
Campos, Y.;
Caciotti, A.;
Sztriha, L.;
Gururaj, A.;
Ozand, P.;
Zammarchi, E.;
Morrone, A.;
D'Azzo, A.

Publication type:

Article

Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 526, doi. 10.1002/humu.20117

By:

Chatr-aryamontri, Andrew;
Angelini, Mara;
Garelli, Emanuela;
Tchernia, Gil;
Ramenghi, Ugo;
Dianzani, Irma;
Loreni, Fabrizio

Publication type:

Article

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 460, doi. 10.1002/humu.20094

By:

Goldin, Ehud;
Stahl, Stefanie;
Cooney, Adele M.;
Kaneski, Christine R.;
Gupta, Surya;
Brady, Roscoe O.;
Ellis, James R.;
Schiffmann, Raphael

Publication type:

Article