Works matching IS 10597794 AND DT 1996 AND VI 8 AND IP 2

Results: 17

Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 108, doi. 10.1002/(SICI)1098-1004(1996)8:2<108::AID-HUMU2>3.0.CO;2-7

By:

Bernardi, F.;
Castaman, G.;
Pinotti, M.;
Ferraresi, P.;
Di Iasio, M.G.;
Lunghi, B.;
Rodeghiero, F.;
Marchetti, G.

Publication type:

Article

Novel mutations and polymorphisms in the Fanconi anemia group C gene.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 140, doi. 10.1002/(SICI)1098-1004(1996)8:2<140::AID-HUMU6>3.0.CO;2-F

By:

Gibson, Rachel A.;
Morgan, Neil V.;
Goldstein, Laura H.;
Pearson, Ian C.;
Kesterton, Ian P.;
Foot, Nicola J.;
Jansen, Stander;
Havenga, Charmaine;
Pearson, Thomas;
de Ravel, Thomy J.;
Cohn, Richard J.;
Marques, Isabel M.;
Dokal, Inderjeet;
Roberts, Irene;
Marsh, Judith;
Ball, Sarah;
Milner, R. David;
Llerena, Juan C.;
Samochatova, Elena;
Mohan, Sheila P.

Publication type:

Article

New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 183, doi. 10.1002/(SICI)1098-1004(1996)8:2<183::AID-HUMU12>3.0.CO;2-Z

By:

Meloni, Alessandra;
Meloni, Antonella;
Cao, Antonio;
Rosatelli, Maria Cristina

Publication type:

Article

Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 116, doi. 10.1002/(SICI)1098-1004(1996)8:2<116::AID-HUMU3>3.0.CO;2-9

By:

DeMarchi, Jean M.;
Caskey, C. Thomas;
Richards, C. Sue

Publication type:

Article

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 149, doi. 10.1002/(SICI)1098-1004(1996)8:2<149::AID-HUMU7>3.0.CO;2-6

By:

Morral, Núria;
Dörk, Thilo;
Llevadot, Roser;
Dziadek, Violetta;
Mercier, Bernard;
Férec, Claude;
Costes, Bruno;
Girodon, Emmanuelle;
Zielenski, Julian;
Tsui, Lap-Chee;
Tümmler, Burkhard;
Estivill, Xavier

Publication type:

Article

Four novel germline mutations of the APC gene.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 193, doi. 10.1002/(SICI)1098-1004(1996)8:2<193::AID-HUMU16>3.0.CO;2-Y

By:

Wells, Dagan;
Chapman, Pamela;
Landgrebe, Judith C.;
Tsioupra, Katia;
Delhanty, Joy D.A.

Publication type:

Article

Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS→TVDQS).

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 180, doi. 10.1002/(SICI)1098-1004(1996)8:2<180::AID-HUMU11>3.0.CO;2-Z

By:

Tripatara, Amporn;
Kerr, Douglas S.;
Lusk, Marilyn M.;
Kolli, Madhu;
Tan, Jie;
Patel, Mulchand S.

Publication type:

Article

Charcot-Marie-Tooth type 1B neuropathy: A mutation at the single glycosylation site in the major peripheral myelin glycoprotein P0.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 185, doi. 10.1002/(SICI)1098-1004(1996)8:2<185::AID-HUMU13>3.0.CO;2-Z

By:

Blanquet-Grossard, Françoise;
Pham-Dinh, Danielle;
Dautigny, André;
Latour, Philippe;
Bonnebouche, Christine;
Diraison, Philippe;
Chapon, Françoise;
Chazot, Guy;
Vandenberghe, Antoon

Publication type:

Article

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 97, doi. 10.1002/(SICI)1098-1004(1996)8:2<97::AID-HUMU1>3.0.CO;2-M

By:

Maillet, Philippe;
Alloisio, Nicole;
Morlé, Laurette;
Delaunay, Jean

Publication type:

Article

Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 187, doi. 10.1002/(SICI)1098-1004(1996)8:2<187::AID-HUMU14>3.0.CO;2-Z

By:

Fukuda, Seiji;
Tomatsu, Shunji;
Cooper, Alan;
Wraith, J.E.;
Kato, Zenichiro;
Yamada, Naoto;
Isogai, Koji;
Sukegawa, Kazuko;
Kondo, Naomi;
Orii, Tadao

Publication type:

Article

Clinically applicable mutation screening in familial hypercholesterolemia.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 168, doi. 10.1002/(SICI)1098-1004(1996)8:2<168::AID-HUMU9>3.0.CO;2-7

By:

Nissen, Henrik;
Guldberg, Per;
Hansen, Annebirthe Bo;
Petersen, Niels Erik;
Hørder, Mogens

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1996, v. 8, n. 2, p. fmi, doi. 10.1002/humu.1380080201
Publication type:: Article

Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 134, doi. 10.1002/(SICI)1098-1004(1996)8:2<134::AID-HUMU5>3.0.CO;2-B

By:

Duarte, Ângela;
Amaral, Margarida;
Barreto, Celeste;
Pacheco, Paula;
Lavinha, João

Publication type:

Article

Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 178, doi. 10.1002/(SICI)1098-1004(1996)8:2<178::AID-HUMU10>3.0.CO;2-#

By:

Wang, Tso-Ren;
Wang, Wen-Pin;
Hwu, Wuh-Liang;
Lee, Ming-Liang

Publication type:

Article

Two new variants of RAG-1 protein predicted by SSCP.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 191, doi. 10.1002/(SICI)1098-1004(1996)8:2<191::AID-HUMU15>3.0.CO;2-Y

By:

Nomdedéu, J.F.;
Lasa, A.;
Seminago, R.;
Rubiol, E.;
Baiget, M.;
Soler, J.

Publication type:

Article

Allele-specific measurement of low-density lipoprotein receptor transcript levels.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 126, doi. 10.1002/(SICI)1098-1004(1996)8:2<126::AID-HUMU4>3.0.CO;2-9

By:

Jensen, Lillian G.;
Jensen, Henrik K.;
Heath, Finn;
Eiberg, Hans;
Kjeldsen, Margrethe;
Færgeman, Ole;
Kølvraa, Steen;
Bolund, Lars;
Gregersen, Niels

Publication type:

Article

Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis.

Published in:

Human Mutation, 1996, v. 8, n. 2, p. 160, doi. 10.1002/(SICI)1098-1004(1996)8:2<160::AID-HUMU8>3.0.CO;2-F

By:

Wu, Ying;
Hofstra, Robert M.W.;
Scheffer, Hans;
Uitterlinden, André G.;
Mullaart, Erik;
Buys, Charles H.C.M.;
Vijg, Jan

Publication type:

Article