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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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