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Titolo:
Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in thelow-density lipoprotein receptor gene in patients with familial hypercholesterolemia from St. Petersburg
Autore:
Zakharova, FM; Golubkov, VI; Mandelshtam, MJ; Lipovetskii, BM; Gaitskhoki, VS;
Indirizzi:
Russian Acad Sci, Inst Expt Med, St Petersburg 197376, Russia Russian AcadSci St Petersburg Russia 197376 t Petersburg 197376, Russia Russian Acad Sci, Inst Human Brain, St Petersburg 196140, Russia Russian Acad Sci St Petersburg Russia 196140 t Petersburg 196140, Russia
Titolo Testata:
RUSSIAN JOURNAL OF BIOORGANIC CHEMISTRY
fascicolo: 5, volume: 27, anno: 2001,
pagine: 349 - 351
SICI:
1068-1620(200109/10)27:5<349:IONMMG>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN LDL RECEPTOR; OPTIMIZATION; 347DELGCC;
Keywords:
mutation; single nucleotide polymorphisms; low-density lipoprotein receptor; familial hypercholesterolemia;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Zakharova, FM Russian Acad Sci, Inst Expt Med, Ul Akad Pavlova 12, St Petersburg 197376,Russia Russian Acad Sci Ul Akad Pavlova 12 St Petersburg Russia 197376
Citazione:
F.M. Zakharova et al., "Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in thelow-density lipoprotein receptor gene in patients with familial hypercholesterolemia from St. Petersburg", RUS J BIOOR, 27(5), 2001, pp. 349-351

Abstract

Novel missense mutation G571E (c.1775 G > A), novel silent mutation H229H (c.750 C > T), and nonsense mutation C74X (c.285 C > A), earlier described in Japan but unknown in Russia, were identified in the low-density lipoprotein (LDL) receptor gene in St. Petersburg familial hypercholesterolemia patients. The analyzed group of patients was shown to be polymorphic in many positions of the LDL receptor gene, namely, c.1171 G/A, c.1773 T/C, c.2177 C/T, and c.2231 G/A.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 08:44:49