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Pregled bibliografske jedinice broj: 138163

Časopis

Autori: Ivkošić, Ante; Titlić, Marina; Tadić, Tade; Erceg, Ivana; Marović, Anton; Primorac, Dragan
Naslov: Huntington's disease, case report
Izvornik: Neurologia i Neurochirurgia Polska (0028-3843) 37 (2003), 1; 235-241
Vrsta rada: članak
Ključne riječi: Huntington's disease
Sažetak:
Huntington's disease (HD) is a chronic neurodegenerative disorder, characterized by the following triad of clinical hallmarks: chorea, cognitive impairment and behavior disorders [8]. In 1993 the gene responsible for HD, whose mutation results in HD, was identified and mapped on the chromosome 4p16.3 [6]. The mutation is a characteristic expansion of a CAG nucleotide triplet. In this paper we present a 36-years-old female patient with HD who was submitted to a complete diagnostic procedure including genetic testing. Her pedigree was reconstructed using available medical documentation and tracing other members of her family.
Projekt / tema: 141009
Izvorni jezik: ENG
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bazama podataka:
MEDLINE
Scopus
Kategorija: Stručni
Znanstvena područja:
Temeljne medicinske znanosti
Puni text rada: 138163.2003_Neurol_Neurochir_Ivkosic_Choroba_Huntingtona.pdf (tekst priložen 28. Ožu. 2007. u 14:51 sati)
URL cjelovitog teksta:
Google Scholar: Huntington's disease, case report



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