Works matching IS 10597794 AND DT 2000 AND VI 15 AND IP 3

Results: 24

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 238, doi. 10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3

By:

Wang, Yuhuan;
Kelly, Michelle A.;
Cowan, Tina M.;
Longo, Nicola

Publication type:

Article

Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 261, doi. 10.1002/(SICI)1098-1004(200003)15:3<261::AID-HUMU7>3.0.CO;2-T

By:

Kugler, Wilfried;
Willaschek, Christian;
Holtz, Christiane;
Ohlenbusch, Andreas;
Laspe, Petra;
Krügener, Regina;
Muirhead, Hilary;
Schröter, Werner;
Lakomek, Max

Publication type:

Article

Mutation 985A>G in the MCAD gene shows low incidence in Estonian population.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 293, doi. 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU12>3.0.CO;2-N

By:

Lilleväli, Hardo;
Margus, Külli;
Õunap, Katrin;
Metspalu, Andres

Publication type:

Article

Identification of a novel large F9 gene mutation-An insertion of an Alu repeated DNA element in exon e of the factor 9 gene.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 299, doi. 10.1002/(SICI)1098-1004(200003)15:3<299::AID-HUMU23>3.0.CO;2-1

By:

Wulff, K.;
Gazda, H.;
Schröder, W.;
Robicka-Milewska, R.;
Herrmann, F.H.

Publication type:

Article

IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 295, doi. 10.1002/(SICI)1098-1004(200003)15:3<295::AID-HUMU16>3.0.CO;2-5

By:

Kristiansen, Ole P.;
Pociot, Flemming;
Bennett, Eric P.;
Clausen, Henrik;
Johannesen, Jesper;
Nerup, Jørn;
Mandrup-Poulsen, Thomas

Publication type:

Article

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 228, doi. 10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9

By:

Wirth, Brunhilde

Publication type:

Article

Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL; CLN1).

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 273, doi. 10.1002/(SICI)1098-1004(200003)15:3<273::AID-HUMU8>3.0.CO;2-L

By:

Salonen, Tarja;
Järvelä, Irma;
Peltonen, Leena;
Jalanko, Anu

Publication type:

Article

Phenylketonuria and hyperphenylalaninemia in eastern Germany: A characteristic molecular profile and 15 novel mutations.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 254, doi. 10.1002/(SICI)1098-1004(200003)15:3<254::AID-HUMU6>3.0.CO;2-W

By:

Hennermann, Julia B.;
Vetter, Barbara;
Wolf, Claudia;
Windt, Elke;
Bührdel, Peter;
Seidel, Jörg;
Mönch, Eberhard;
Kulozik, Andreas E.

Publication type:

Article

A novel missense mutation (R712L) adjacent to the 'active thiol' region of the cardiac β-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 298, doi. 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU22>3.0.CO;2-7

By:

Sakthivel, Sadayappan;
Joseph, Pulavelil Kurian;
Tharakan, Jagan Mohan;
Vosberg, Hans-Peter;
Rajamanickam, Chellam

Publication type:

Article

High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 295, doi. 10.1002/(SICI)1098-1004(200003)15:3<295::AID-HUMU15>3.0.CO;2-8

By:

Pogoda, T.V.;
Krakhmaleva, I.N.;
Lipatova, N.A.;
Shakhovskaya, N.I.;
Shishkin, S.S.;
Limborska, S.A.

Publication type:

Article

The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 298, doi. 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU19>3.0.CO;2-O

By:

Ikebuchi, Masahiko;
Yamamoto, Toshiyuki;
Chikumi, Hiroki;
Tanaka, Yoshiyuki;
Nanba, Eiji;
Kuroda, Hiroaki;
Ohgi, Shigetsugu

Publication type:

Article

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 220, doi. 10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K

By:

Wuyts, Wim;
Van Hul, Wim

Publication type:

Article

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 293, doi. 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU11>3.0.CO;2-Q

By:

Taillandier, A.;
Cozien, E.;
Muller, F.;
Merrien, Y.;
Bonnin, E.;
Fribourg, C.;
Simon-Bouy, B.;
Serre, J.L.;
Bieth, E.;
Brenner, R.;
Cordier, M.P.;
De Bie, S.;
Fellmann, F.;
Freisinger, P.;
Hesse, V.;
Hennekam, R.C.M.;
Josifova, D.;
Kerzin-Storrar, L.;
Leporrier, N.;
Zabot, M.T.

Publication type:

Article

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 246, doi. 10.1002/(SICI)1098-1004(200003)15:3<246::AID-HUMU5>3.0.CO;2-#

By:

Alves, Sandra;
Prata, Maria João;
Ferreira, Fátima;
Amorim, António

Publication type:

Article

A novel DNA polymorphism (4886C>T) in the human LCAT gene.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 298, doi. 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU21>3.0.CO;2-A

By:

Recalde, Delia;
Cenarro, Ana;
Civeira, Fernando;
Garcia-Otin, Angel-Luis;
Pocovi, Miguel

Publication type:

Article

Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 294, doi. 10.1002/(SICI)1098-1004(200003)15:3<294::AID-HUMU14>3.0.CO;2-E

By:

Wang, Jian;
Hegele, Robert A.

Publication type:

Article

Various AGC repeat numbers in the coding region of the human transcription factor gene E2F-4.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 296, doi. 10.1002/(SICI)1098-1004(200003)15:3<296::AID-HUMU18>3.0.CO;2-X

By:

Zhong, Xiaoling;
Hemmi, Hiromichi;
Koike, Junichi;
Tsujita, Kazunori;
Shimatake, Hiroyuki

Publication type:

Article

Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 209, doi. 10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K

By:

Lissens, Willy;
De Meirleir, Linda;
Seneca, Sara;
Liebaers, Inge;
Brown, Garry K.;
Brown, Ruth M.;
Ito, Michinori;
Naito, Etsuo;
Kuroda, Yasuhiro;
Kerr, Douglas S.;
Wexler, Isaiah D.;
Patel, Mulchand S.;
Robinson, Brian H.;
Seyda, Agnieszka

Publication type:

Article

7th International HUGO Mutation Database Meeting, October 19, 1999, San Francisco, U.S.A.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 288, doi. 10.1002/(SICI)1098-1004(200003)15:3<288::AID-HUMU10>3.0.CO;2-F

By:

Horaitis, Ourania;
Cotton, Richard G.H.

Publication type:

Article

Polymorphism (g2035C>T) in the amelogenin gene.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 298, doi. 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU20>3.0.CO;2-D

By:

Hart, P.S.;
Vlaservich, A.C.;
Hart, T.C.;
Wright, J.T.

Publication type:

Article

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 280, doi. 10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I

By:

Sibani, Sahar;
Christensen, Benedicte;
O'Ferrall, Erin;
Saadi, Irfan;
Hiou-Tim, François;
Rosenblatt, David S.;
Rozen, Rima

Publication type:

Article

Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 294, doi. 10.1002/(SICI)1098-1004(200003)15:3<294::AID-HUMU13>3.0.CO;2-H

By:

Martín, Miguel A.;
Rubio, Juan C.;
Campos, Yolanda;
Vílchez, Juan;
Cabello, Ana;
Arenas, Joaquín

Publication type:

Article

Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 299, doi. 10.1002/(SICI)1098-1004(200003)15:3<299::AID-HUMU24>3.0.CO;2-Z

By:

Muglia, M.;
Toscano, A.;
Gabriele, A.L.;
Magariello, A.;
Patitucci, A.;
Conforti, F.L.;
Mazzei, R.;
Rodolico, C.;
Gambardella, A.;
Quattrone, A.

Publication type:

Article

PCR diagnosis of X-linked ichthyosis: Identification of a novel mutation (E560P) of the steroid sulfatase gene.

Published in:

Human Mutation, 2000, v. 15, n. 3, p. 296, doi. 10.1002/(SICI)1098-1004(200003)15:3<296::AID-HUMU17>3.0.CO;2-#

By:

Sugawara, Teruo;
Shimizu, Hiroshi;
Hoshi, Nobuhiko;
Fujimoto, Yuko;
Nakajima, Ayako;
Fujimoto, Seiichiro

Publication type:

Article