Works matching IS 10597794 AND DT 1998 AND VI 11 AND IP 3

Results: 11

Transcript dosage effect in familial adenomatous polyposis: Model offered by two kindreds with exon 9 APC gene mutations.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 197, doi. 10.1002/(SICI)1098-1004(1998)11:3<197::AID-HUMU3>3.0.CO;2-F

By:

Curia, Maria Cristina;
Esposito, Diana L.;
Aceto, Gitana;
Palmirotta, Raffaele;
Crognale, Stefania;
Valanzano, Rosa;
Ficari, Ferdinando;
Tonelli, Francesco;
Battista, Pasquale;
Mariani-Costantini, Renato;
Cama, Alessandro

Publication type:

Article

Multiple exon screening using restriction endonuclease fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 222, doi. 10.1002/(SICI)1098-1004(1998)11:3<222::AID-HUMU7>3.0.CO;2-J

By:

Du, Yang-Zhu;
Srivastava, Anand K.;
Schwartz, Charles E.

Publication type:

Article

Snapback SSCP analysis: Engineered conformation changes for the rapid typing of known mutations.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 252, doi. 10.1002/(SICI)1098-1004(1998)11:3<252::AID-HUMU11>3.0.CO;2-Y

By:

Wilton, Steve D.;
Honeyman, Kaite;
Fletcher, Sue;
Laing, Nigel G.

Publication type:

Article

Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 191, doi. 10.1002/(SICI)1098-1004(1998)11:3<191::AID-HUMU2>3.0.CO;2-L

By:

Liu, Vincent W. S.;
Zhang, Chunfang;
Pang, Cheng-Yoong;
Lee, Hsin-Chen;
Lu, Ching-You;
Wei, Yau-Huei;
Nagley, Phillip

Publication type:

Article

Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 216, doi. 10.1002/(SICI)1098-1004(1998)11:3<216::AID-HUMU6>3.0.CO;2-F

By:

Poorkaj, Parvoneh;
Sharma, Vikram;
Anderson, Leojean;
Nemens, Ellen;
Alonso, Ma Elias;
Orr, Harry;
White, June;
Heston, Leonard;
Bird, Thomas D.;
Schellenberg, Gerard D.

Publication type:

Article

Novel mutations in the TIGR gene in early and late onset open angle glaucoma.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 244, doi. 10.1002/(SICI)1098-1004(1998)11:3<244::AID-HUMU10>3.0.CO;2-Z

By:

Mansergh, Fiona C.;
Kenna, Paul F.;
Ayuso, Carmen;
Kiang, Anna-Sophia;
Humphries, Peter;
Farrar, G. Jane

Publication type:

Article

Presenilin mutations in Alzheimer's disease.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 183, doi. 10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J

By:

Cruts, Marc;
Van Broeckhoven, Christine

Publication type:

Article

Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 209, doi. 10.1002/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C

By:

Hermans, Monique M. P.;
Kroos, Marian A.;
Smeitink, Jan A. M.;
van der Ploeg, Ans T.;
Kleijer, Wim J.;
Reuser, Arnold J. J.

Publication type:

Article

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 240, doi. 10.1002/(SICI)1098-1004(1998)11:3<240::AID-HUMU9>3.0.CO;2-L

By:

Bosco, Paolo;
Calì, Francesco;
Meli, Concetta;
Mollica, Florindo;
Zammarchi, Enrico;
Cerone, Roberto;
Vanni, Cristina;
Palillo, Letizia;
Greco, Donatella;
Romano, Valentino

Publication type:

Article

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 202, doi. 10.1002/(SICI)1098-1004(1998)11:3<202::AID-HUMU4>3.0.CO;2-J

By:

Yamada, Naoto;
Fukuda, Seiji;
Tomatsu, Shunji;
Muller, Vivienne;
Hopwood, John J.;
Nelson, John;
Kato, Zenichiro;
Yamagishi, Atushi;
Sukegawa, Kazuko;
Kondo, Naomi;
Orii, Tadao

Publication type:

Article

Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 231, doi. 10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K

By:

Raskind, Wendy H.;
Conrad, Ernest U.;
Matsushita, Mark;
Wijsman, Ellen M.;
Wells, Dan E.;
Chapman, Nicola;
Sandell, Linda J.;
Wagner, Michael;
Houck, John

Publication type:

Article