Pregled bibliografske jedinice broj: 553354
Clinical and genetic findings in an unusual pedigree with infantile spinal muscular atrophy caused by a compound heterozygous mutation in the SMN1 gene
Clinical and genetic findings in an unusual pedigree with infantile spinal muscular atrophy caused by a compound heterozygous mutation in the SMN1 gene // Abstracts of The 9th Congress of the European Paediatric Neurology Society (EPNS 2011) ; u: European journal of paediatric neurology 15 (2001) (S1) ; P15.10
Cavtat, Hrvatska, 2011. str. S94-S94 (poster, međunarodna recenzija, sažetak, znanstveni)
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Naslov
Clinical and genetic findings in an unusual pedigree with infantile spinal muscular atrophy caused by a compound heterozygous mutation in the SMN1 gene
Autori
Lehman, Ivan ; Eggermann, T. ; Lochmüller, Hanns ; Sertie, J. ; Barišić, Nina
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
Abstracts of The 9th Congress of the European Paediatric Neurology Society (EPNS 2011) ; u: European journal of paediatric neurology 15 (2001) (S1) ; P15.10
/ - , 2011, S94-S94
Skup
Congress of the European Paediatric Neurology Society (9 ; 2011)
Mjesto i datum
Cavtat, Hrvatska, 11.07.2011. - 14.07.2011
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
spinal muscular atrophy; SMN1 gene
Sažetak
Clinical and genetic findings in infantile spinal muscular atrophy caused by a compound heterozygous mutation in the SMN1 gene.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
108-1081870-1886 - Uloga subkortikalnih struktura u epileptogenezi u razvojnoj dobi (Barišić, Nina, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE
