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Pregled bibliografske jedinice broj: 138163

Huntington's disease, case report


Ivkošić, Ante; Titlić, Marina; Tadić, Tade; Erceg, Ivana; Marović, Anton; Primorac, Dragan
Huntington's disease, case report // Neurologia i Neurochirurgia Polska, 37 (2003), 1; 235-241 (podatak o recenziji nije dostupan, članak, stručni)


CROSBI ID: 138163 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Huntington's disease, case report

Autori
Ivkošić, Ante ; Titlić, Marina ; Tadić, Tade ; Erceg, Ivana ; Marović, Anton ; Primorac, Dragan

Izvornik
Neurologia i Neurochirurgia Polska (0028-3843) 37 (2003), 1; 235-241

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekti:
141009

Ustanove:
KBC Split

Citiraj ovu publikaciju

Ivkošić, Ante; Titlić, Marina; Tadić, Tade; Erceg, Ivana; Marović, Anton; Primorac, Dragan
Huntington's disease, case report // Neurologia i Neurochirurgia Polska, 37 (2003), 1; 235-241 (podatak o recenziji nije dostupan, članak, stručni)
Ivkošić, A., Titlić, M., Tadić, T., Erceg, I., Marović, A. & Primorac, D. (2003) Huntington's disease, case report. Neurologia i Neurochirurgia Polska, 37 (1), 235-241.
@article{article, year = {2003}, pages = {235-241}, keywords = {Huntington's disease}, journal = {Neurologia i Neurochirurgia Polska}, volume = {37}, number = {1}, issn = {0028-3843}, title = {Huntington's disease, case report}, keyword = {Huntington's disease} }
@article{article, year = {2003}, pages = {235-241}, keywords = {Huntington's disease}, journal = {Neurologia i Neurochirurgia Polska}, volume = {37}, number = {1}, issn = {0028-3843}, title = {Huntington's disease, case report}, keyword = {Huntington's disease} }

Časopis indeksira:


  • Scopus
  • MEDLINE


Uključenost u ostale bibliografske baze podataka:


  • MEDLINE





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