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- Title
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.
- Authors
Papari, E; Bastami, M; Farhadi, A; Abedini, SS; Hosseini, M; Bahman, I; Mohseni, M; Garshasbi, M; Moheb, L Abbasi; Behjati, F; Kahrizi, K; Ropers, H‐H; Najmabadi, H
- Abstract
The article presents a study which identifies the genetic causes of primary microcephaly in Bushehr, Iran. The study involved 14 families with autosomal recessive primary microcephaly (MCPH) loci. The families were genotyped using microsatellite markers. It also examines the missense mutations of abnormal spindle-like microcephaly associated (ASPM ) and STIL genes of the families.
- Subjects
BUSHIHR (Iran); MICROCEPHALY; MOLECULAR genetics; MICROSATELLITE repeats; NONSENSE mutation; EXONS (Genetics); LOCUS (Genetics); GENETICS
- Publication
Clinical Genetics, 2013, Vol 83, Issue 5, p488
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/j.1399-0004.2012.01949.x