Works matching IS 10597794 AND DT 1997 AND VI 10 AND IP 6

Results: 13

Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency.

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 430, doi. 10.1002/(SICI)1098-1004(1997)10:6<430::AID-HUMU3>3.0.CO;2-H

By:

Villard, Jean;
Reith, Walter;
Barras, Emmanuèle;
Gos, Arnaud;
Morris, Michael A.;
Antonarakis, Stylianos E.;
Van den Elsen, Peter J.;
Mach, Bernard

Publication type:

Article

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers.

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 458, doi. 10.1002/(SICI)1098-1004(1997)10:6<458::AID-HUMU7>3.0.CO;2-9

By:

Giovannone, Barbara;
Sabbadini, Guglielmo;
Di Maio, Luigi;
Calabrese, Olga;
Castaldo, Imma;
Frontali, Marina;
Novelletto, Andrea;
Squitieri, Ferdinando

Publication type:

Article

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families.

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 443, doi. 10.1002/(SICI)1098-1004(1997)10:6<443::AID-HUMU5>3.0.CO;2-E

By:

Rouger, H;
LeGuern, E;
Birouk, N;
Gouider, R;
Tardieu, S;
Plassart, E;
Gugenheim, M;
Vallat, J-M;
Louboutin, J-P;
Bouche, P;
Agid, Y;
Brice, A

Publication type:

Article

Molecular basis of heat labile hexosaminidase B among Jews and Arabs.

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 424, doi. 10.1002/(SICI)1098-1004(1997)10:6<424::AID-HUMU2>3.0.CO;2-D

By:

Narkis, Ginat;
Adam, Avinoam;
Jaber, Lutfi;
Pennybacker, Mark;
Proia, Richard L.;
Navon, Ruth

Publication type:

Article

Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 451, doi. 10.1002/(SICI)1098-1004(1997)10:6<451::AID-HUMU6>3.0.CO;2-G

By:

Drucker, Liat;
Hemli, Jesaiachu Armand;
Navon, Ruth

Publication type:

Article

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 479, doi. 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X

By:

Bunge, Susanna;
Ince, Hüseyin;
Steglich, Cordula;
Kleijer, Wim J.;
Beck, Michael;
Zaremba, Jacek;
van Diggelen, Otto P.;
Weber, Birgit;
Hopwood, John J.;
Gal, Andreas

Publication type:

Article

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 415, doi. 10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C

By:

Hayward, Caroline;
Brock, David J. H.

Publication type:

Article

The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: Usefulness and limitations.

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 486, doi. 10.1002/(SICI)1098-1004(1997)10:6<486::AID-HUMU11>3.0.CO;2-W

By:

Martorell, Lourdes;
Pujana, Miguel Angel;
Volpini, Victor;
Sanchez, Aurora;
Joven, Jorge;
Vilella, Elisabet;
Estivill, Xavier

Publication type:

Article

Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomas.

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 474, doi. 10.1002/(SICI)1098-1004(1997)10:6<474::AID-HUMU9>3.0.CO;2-D

By:

Yin, Jing;
Kong, Dehe;
Wang, Suna;
Zou, Tong-Tong;
Souza, Rhonda F.;
Smolinski, Kara N.;
Lynch, Patrick M.;
Hamilton, Stanley R.;
Sugimura, Haruhiko;
Powell, Steven M.;
Young, Joanne;
Abraham, John M.;
Meltzer, Stephen J.

Publication type:

Article

An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia.

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 496, doi. 10.1002/(SICI)1098-1004(1997)10:6<496::AID-HUMU13>3.0.CO;2-V

By:

Lanning, Robert W.;
Brown, Charlotte A.

Publication type:

Article

Cystic fibrosis mutation frequencies in upstate New York.

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 436, doi. 10.1002/(SICI)1098-1004(1997)10:6<436::AID-HUMU4>3.0.CO;2-B

By:

Shrimpton, Antony E.;
Borowitz, Drucy;
Swender, Phillip

Publication type:

Article

Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 465, doi. 10.1002/(SICI)1098-1004(1997)10:6<465::AID-HUMU8>3.0.CO;2-C

By:

Mailly, France;
Palmen, Jutta;
Muller, David P. R.;
Gibbs, Tracy;
Lloyd, June;
Brunzell, John;
Durrington, Paul;
Mitropoulos, Kostas;
Betteridge, John;
Watts, Gerald;
Lithell, Hans;
Angelico, Franco;
Humphries, Steve E.;
Talmud, Philippa J.

Publication type:

Article

Method for in situ investigation of mitochondrial DNA deletions.

Published in:

Human Mutation, 1997, v. 10, n. 6, p. 489, doi. 10.1002/(SICI)1098-1004(1997)10:6<489::AID-HUMU12>3.0.CO;2-W

By:

Kovalenko, Sergey A.;
Harms, Paul J.;
Tanaka, Masashi;
Baumer, Alessandra;
Kelso, Joanne;
Ozawa, Takayuki;
Linnane, Anthony W.

Publication type:

Article