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Pregled bibliografske jedinice broj: 266273

Mitochondrial DNA point mutation G11778A is associated with Leber's hereditary optic neuroretinopathy (LHON) in two Croatian families

Martin-Kleiner, Irena; Gabrilovac, Jelka; Bradvica, Mario; Vidović, Tomislav; Cerovski, Branimir; Fumić, Ksenija; Čupić, Barbara; Boranić, Milivoj
Mitochondrial DNA point mutation G11778A is associated with Leber's hereditary optic neuroretinopathy (LHON) in two Croatian families // EMBO/HHMI Central European Scientists Meeting 2006, Conference Proceedings / . (ur.).
Dubrovnik, Hrvatska; Cavtat, Hrvatska: HHMI - Howard Hughes Medical Institute, 2006. str. 69-69 (poster, međunarodna recenzija, sažetak, znanstveni)

CROSBI ID: 266273 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Mitochondrial DNA point mutation G11778A is associated with Leber's hereditary optic neuroretinopathy (LHON) in two Croatian families

Autori
Martin-Kleiner, Irena ; Gabrilovac, Jelka ; Bradvica, Mario ; Vidović, Tomislav ; Cerovski, Branimir ; Fumić, Ksenija ; Čupić, Barbara ; Boranić, Milivoj

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
EMBO/HHMI Central European Scientists Meeting 2006, Conference Proceedings / . - : HHMI - Howard Hughes Medical Institute, 2006, 69-69

Skup
EMBO/HHMI Central European Scientists Meeting 2006

Mjesto i datum
Dubrovnik, Hrvatska; Cavtat, Hrvatska, 15.06.2006. - 17.06.2006

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
LHON; visual impairment; mitochondrial DNA; G11778A point mutation

Sažetak
LHON G11778A mitochondrial DNA point mutations were tested in five Croatian families with members having severe visual impairment. The mutation was detected in 10 of 24 tested individuals in two families.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Projekti:
0219111
0098094

Ustanove:
Institut "Ruđer Bošković", Zagreb

Profili:

Avatar Url Milivoj Boranić (autor)

Avatar Url Ksenija Fumić (autor)

Avatar Url Jelka Gabrilovac (autor)

Avatar Url Irena Martin-Kleiner (autor)

Avatar Url Tomislav Vidović (autor)

Avatar Url Barbara Čupić (autor)

Avatar Url Branimir Cerovski (autor)

Citiraj ovu publikaciju:

Martin-Kleiner, Irena; Gabrilovac, Jelka; Bradvica, Mario; Vidović, Tomislav; Cerovski, Branimir; Fumić, Ksenija; Čupić, Barbara; Boranić, Milivoj
Mitochondrial DNA point mutation G11778A is associated with Leber's hereditary optic neuroretinopathy (LHON) in two Croatian families // EMBO/HHMI Central European Scientists Meeting 2006, Conference Proceedings / . (ur.).
Dubrovnik, Hrvatska; Cavtat, Hrvatska: HHMI - Howard Hughes Medical Institute, 2006. str. 69-69 (poster, međunarodna recenzija, sažetak, znanstveni)
Martin-Kleiner, I., Gabrilovac, J., Bradvica, M., Vidović, T., Cerovski, B., Fumić, K., Čupić, B. & Boranić, M. (2006) Mitochondrial DNA point mutation G11778A is associated with Leber's hereditary optic neuroretinopathy (LHON) in two Croatian families. U: . (ur.)EMBO/HHMI Central European Scientists Meeting 2006, Conference Proceedings.
@article{article, author = {Martin-Kleiner, Irena and Gabrilovac, Jelka and Bradvica, Mario and Vidovi\'{c}, Tomislav and Cerovski, Branimir and Fumi\'{c}, Ksenija and \v{C}upi\'{c}, Barbara and Borani\'{c}, Milivoj}, year = {2006}, pages = {69-69}, keywords = {LHON, visual impairment, mitochondrial DNA, G11778A point mutation}, title = {Mitochondrial DNA point mutation G11778A is associated with Leber's hereditary optic neuroretinopathy (LHON) in two Croatian families}, keyword = {LHON, visual impairment, mitochondrial DNA, G11778A point mutation}, publisher = {HHMI - Howard Hughes Medical Institute}, publisherplace = {Dubrovnik, Hrvatska; Cavtat, Hrvatska} }
@article{article, author = {Martin-Kleiner, Irena and Gabrilovac, Jelka and Bradvica, Mario and Vidovi\'{c}, Tomislav and Cerovski, Branimir and Fumi\'{c}, Ksenija and \v{C}upi\'{c}, Barbara and Borani\'{c}, Milivoj}, year = {2006}, pages = {69-69}, keywords = {LHON, visual impairment, mitochondrial DNA, G11778A point mutation}, title = {Mitochondrial DNA point mutation G11778A is associated with Leber's hereditary optic neuroretinopathy (LHON) in two Croatian families}, keyword = {LHON, visual impairment, mitochondrial DNA, G11778A point mutation}, publisher = {HHMI - Howard Hughes Medical Institute}, publisherplace = {Dubrovnik, Hrvatska; Cavtat, Hrvatska} }

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