Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.

Autor: 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
Předmět:
Zdroj: Clinical Genetics; May2013, Vol. 83 Issue 5, p488-490, 3p, 1 Chart, 1 Graph
Abstrakt: 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.
Databáze: Complementary Index