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

Results: 13

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
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
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
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
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
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
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
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
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
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