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Titolo:
The Werner syndrome gene and global sequence variation
Autore:
Passarino, G; Shen, P; Van Kirk, JB; Lin, AA; De Benedictis, G; Sforza, LLC; Oefner, PJ; Underhill, PA;
Indirizzi:
Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA Stanford Univ Stanford CA USA 94305 d, Dept Genet, Stanford, CA 94305 USA Stanford Genome Technol Ctr, Palo Alto, CA 94304 USA Stanford Genome Technol Ctr Palo Alto CA USA 94304 alo Alto, CA 94304 USA Univ Calabria, Dept Cell Biol, I-87030 Rende, Italy Univ Calabria Rende Italy I-87030 , Dept Cell Biol, I-87030 Rende, Italy
Titolo Testata:
GENOMICS
fascicolo: 1, volume: 71, anno: 2001,
pagine: 118 - 122
SICI:
0888-7543(20010101)71:1<118:TWSGAG>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
SINGLE-NUCLEOTIDE POLYMORPHISMS; MUTATIONS; POPULATION; MUTANTS; LOCUS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Passarino, G Stanford Univ, Sch Med, Dept Genet, Room M304,300 Pasteur Dr,Stanford, CA94305 USA Stanford Univ Room M304,300 Pasteur Dr Stanford CA USA 94305
Citazione:
G. Passarino et al., "The Werner syndrome gene and global sequence variation", GENOMICS, 71(1), 2001, pp. 118-122

Abstract

mr, have identified a dense set of markers useful in association studies involving the Werner syndrome (WRN) gene. The homozygotic disruption of the WRN gene is the cause of Werner disease. In addition, this gene is likely to be involved in many complex traits, such as aging, or at least some of the traits and diseases related to age. To investigate the genetic variation associated with the WRN gene, a sample of 93 individuals representing all the continents was analyzed by denaturing high-performance liquid chromatography. A systematic survey of all 35 exons and flanking regions identified 58 single-nucleotide polymorphisms, 15 of which fall in the coding region and cause 11 missense mutations. The resulting global nucleotide diversity was 5.226 x 10(-4), with a slight difference between coding and noncoding regions. (C) 2001 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 18:39:38