Works matching IS 10597794 AND DT 1997 AND VI 10 AND IP 3

Results: 17

Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 236, doi. 10.1002/(SICI)1098-1004(1997)10:3<236::AID-HUMU10>3.0.CO;2-0

By:

Messiaen, Ludwine;
Loon, Conny Van;
Rossau, Rudi;
Canck, Ilse De;
Baets, Frans De;
Robbrecht, Eddy;
Paepe, Anne De

Publication type:

Article

Six novel mutations in the neurofibromatosis type 1 (NF1) gene.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 248, doi. 10.1002/(SICI)1098-1004(1997)10:3<248::AID-HUMU14>3.0.CO;2-#

By:

Upadhyaya, M;
Maynard, J;
Osborn, M;
Harper, PS

Publication type:

Article

E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 186, doi. 10.1002/(SICI)1098-1004(1997)10:3<186::AID-HUMU2>3.0.CO;2-H

By:

Lendon, Corinne L.;
Martinez, Alonso;
Behrens, Isabel Maria;
Kosik, Kenneth S.;
Madrigal, Lucia;
Norton, Joanne;
Neuman, Rosalind;
Myers, Amanda;
Busfield, Frances;
Wragg, Michelle;
Arcos, Mauricio;
Viana, Juan Carlos Arango;
Ossa, Jorge;
Ruiz, Andres;
Goate, Alison M.;
Lopera, Francisco

Publication type:

Article

Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 212, doi. 10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K

By:

Barrientos, Antoni;
Casademont, Jordi;
Genís, David;
Cardellach, Francesc;
Fernández-Real, José Manuel;
Grau, José María;
Urbano-Márquez, Alvaro;
Estivill, Xavier;
Nunes, Virginia

Publication type:

Article

G6PD Sumaré: A novel mutation in the G6PD gene (1292 T→G) associated with chronic nonspherocytic anemia.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 245, doi. 10.1002/(SICI)1098-1004(1997)10:3<245::AID-HUMU13>3.0.CO;2-#

By:

Saad, Sara T. O.;
Salles, Tereza S. I.;
Arruda, Valder R.;
Sonati, M. Fatima;
Costa, Fernando F.

Publication type:

Article

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 179, doi. 10.1002/(SICI)1098-1004(1997)10:3<179::AID-HUMU1>3.0.CO;2-E

By:

Foubert, Luc;
Bruin, Taco;
Gennes, Jean Luc De;
Ehrenborg, Ewa;
Furioli, Jean;
Kastelein, John;
Benlian, Pascale;
Hayden, Michael

Publication type:

Article

Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: A novel mutation in exon 3.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 258, doi. 10.1002/(SICI)1098-1004(1997)10:3<258::AID-HUMU17>3.0.CO;2-Z

By:

Żekanowski, Cezary;
Cabalska, Barbara;
Borsuk, Piotr;
Bal, Jerzy

Publication type:

Article

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 207, doi. 10.1002/(SICI)1098-1004(1997)10:3<207::AID-HUMU5>3.0.CO;2-F

By:

Kok, Yvette J. M. de;
Cremers, Cor W. R. J.;
Ropers, Hans-Hilger;
Cremers, Frans P. M.

Publication type:

Article

A novel mutation (L174R) in the Ca<sup>2+</sup>-sensing receptor gene associated with familial hypocalciuric hypercalcemia.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 233, doi. 10.1002/(SICI)1098-1004(1997)10:3<233::AID-HUMU9>3.0.CO;2-J

By:

Ward, Bryan K.;
Stuckey, Bronwyn G. A.;
Gutteridge, Donald H.;
Laing, Nigel G.;
Pullan, Peter T.;
Ratajczak, Thomas

Publication type:

Article

Hereditary nonpolyposis colorectal cancer (HNPCC): Eight novel germline mutations in hMSH2 or hMLH1 genes.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 241, doi. 10.1002/(SICI)1098-1004(1997)10:3<241::AID-HUMU12>3.0.CO;2-#

By:

Wehner, Martin;
Buschhausen, Lutz;
Lamberti, Christof;
Kruse, Roland;
Caspari, Reiner;
Propping, Peter;
Friedl, Waltraut

Publication type:

Article

Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z

By:

Elpeleg, Orly N.;
Shaag, Avraham;
Glustein, Joseph Z.;
Anikster, Yair;
Joseph, Adina;
Saada, Ann

Publication type:

Article

Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoforms.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 201, doi. 10.1002/(SICI)1098-1004(1997)10:3<201::AID-HUMU4>3.0.CO;2-L

By:

Bala, Shashi;
Sulekova, Zora;
Ballhausen, Wolfgang G.

Publication type:

Article

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 223, doi. 10.1002/(SICI)1098-1004(1997)10:3<223::AID-HUMU8>3.0.CO;2-J

By:

Bunge, Susanna;
Kleijer, Wim J.;
Tylki-Szymanska, Anna;
Steglich, Cordula;
Beck, Michael;
Tomatsu, Shunji;
Fukuda, Seiji;
Poorthuis, Ben J. H. M.;
Czartoryska, Barbara;
Orii, Tadao;
Gal, Andreas

Publication type:

Article

Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 239, doi. 10.1002/(SICI)1098-1004(1997)10:3<239::AID-HUMU11>3.0.CO;2-0

By:

Orozco, Lorena;
Zielenski, Julian;
Markiewicz, Danuta;
Villarreal, Teresa;
Tsui, Lap-Chee;
Lezana, José Luis;
Angel, Rosa M del

Publication type:

Article

Human APRT deficiency: Indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 251, doi. 10.1002/(SICI)1098-1004(1997)10:3<251::AID-HUMU15>3.0.CO;2-Z

By:

Menardi, Claudia;
Schneider, Rainer;
Neuschmid-Kaspar, Felizia;
Klocker, Helmut;
Hirsch-Kauffmann, Monica;
Auer, Bernhard;
Schweiger, Manfred

Publication type:

Article

Hereditary coproporphyria: Exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 196, doi. 10.1002/(SICI)1098-1004(1997)10:3<196::AID-HUMU3>3.0.CO;2-H

By:

Schreiber, William E.;
Zhang, Xian;
Senz, Janine;
Jamani, Azim

Publication type:

Article

Novel point mutations in the dystrophin gene.

Published in:

Human Mutation, 1997, v. 10, n. 3, p. 217, doi. 10.1002/(SICI)1098-1004(1997)10:3<217::AID-HUMU7>3.0.CO;2-F

By:

Sitnik, Roberta;
Campiotto, Simone;
Vainzof, Mariz;
Pavanello, Rita C.;
Takata, Reinaldo I.;
Zatz, Mayana;
Passos-Bueno, Maria Rita

Publication type:

Article