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Pregled bibliografske jedinice broj: 182976

Congenital disorders of glycosylation Ia and Ic in Croatian population

Šupraha.Goreta, Sandra; Flögel, Mirna; Dumić, Jerka
Congenital disorders of glycosylation Ia and Ic in Croatian population // Congress of the Croatian society of biochemistry and molecular biology HDBMB 2004. Book of abstracts / Dumić, Jerka (ur.).
Zagreb: Farmaceutsko-biokemijski fakultet Sveučilišta u Zagrebu, 2004. (poster, nije recenziran, sažetak, ostalo)

CROSBI ID: 182976 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Congenital disorders of glycosylation Ia and Ic in Croatian population

Autori
Šupraha.Goreta, Sandra ; Flögel, Mirna ; Dumić, Jerka

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

Izvornik
Congress of the Croatian society of biochemistry and molecular biology HDBMB 2004. Book of abstracts / Dumić, Jerka - Zagreb : Farmaceutsko-biokemijski fakultet Sveučilišta u Zagrebu, 2004

Skup
Congress of the Croatian society of biochemistry and molecular biology HDBMB 2004

Mjesto i datum
HOC Bjelolasica, Hrvatska, 30.09.2004. - 02.10.2004

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
CDG Ia; CDG Ic; inherited metabolic disorder; PMM2; ALG6 gene; R141H mutation

Sažetak
Congenital disorders of glycosylation Ia and Ic are caused ba mutation in PMM2 and ALG6 genes. Mutation R141H of PMM2 gene were prescreened on limitted subjects of Croatian population by using SSCP and identity of prescreened mutations will be confirmed by sequencing.

Izvorni jezik
Engleski

Znanstvena područja
Biologija



POVEZANOST RADA

Projekti:
0006611

Ustanove:
Farmaceutsko-biokemijski fakultet, Zagreb

Profili:

Avatar Url Mirna Flogel-Mršić (autor)

Citiraj ovu publikaciju:

Šupraha.Goreta, Sandra; Flögel, Mirna; Dumić, Jerka
Congenital disorders of glycosylation Ia and Ic in Croatian population // Congress of the Croatian society of biochemistry and molecular biology HDBMB 2004. Book of abstracts / Dumić, Jerka (ur.).
Zagreb: Farmaceutsko-biokemijski fakultet Sveučilišta u Zagrebu, 2004. (poster, nije recenziran, sažetak, ostalo)
Šupraha.Goreta, S., Flögel, M. & Dumić, J. (2004) Congenital disorders of glycosylation Ia and Ic in Croatian population. U: Dumić, J. (ur.)Congress of the Croatian society of biochemistry and molecular biology HDBMB 2004. Book of abstracts.
@article{article, author = {\v{S}upraha.Goreta, Sandra and Fl\"{o}gel, Mirna and Dumi\'{c}, Jerka}, editor = {Dumi\'{c}, J.}, year = {2004}, pages = {125}, keywords = {CDG Ia, CDG Ic, inherited metabolic disorder, PMM2, ALG6 gene, R141H mutation}, title = {Congenital disorders of glycosylation Ia and Ic in Croatian population}, keyword = {CDG Ia, CDG Ic, inherited metabolic disorder, PMM2, ALG6 gene, R141H mutation}, publisher = {Farmaceutsko-biokemijski fakultet Sveu\v{c}ili\v{s}ta u Zagrebu}, publisherplace = {HOC Bjelolasica, Hrvatska} }
@article{article, author = {\v{S}upraha.Goreta, Sandra and Fl\"{o}gel, Mirna and Dumi\'{c}, Jerka}, editor = {Dumi\'{c}, J.}, year = {2004}, pages = {125}, keywords = {CDG Ia, CDG Ic, inherited metabolic disorder, PMM2, ALG6 gene, R141H mutation}, title = {Congenital disorders of glycosylation Ia and Ic in Croatian population}, keyword = {CDG Ia, CDG Ic, inherited metabolic disorder, PMM2, ALG6 gene, R141H mutation}, publisher = {Farmaceutsko-biokemijski fakultet Sveu\v{c}ili\v{s}ta u Zagrebu}, publisherplace = {HOC Bjelolasica, Hrvatska} }

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