Konu "Identification" için Araştırma Merkezleri listeleme
Toplam kayıt 2, listelenen: 1-2
-
FMR1 Gene Mutation Analysis and CGG Repeat Number Distribution from a Single Center
(Gazi Univ, Fac Med, 2022)Background: Mutation occurring in fragile X mental retardation 1 (FMR1) gene is acknowledged as the most common cause for X chromosome linked intellectual disability/mental retardation (XLID/XLMR). This gene harbors unstable ... -
Gap-PCR Screening for Common Large Deletional Mutations of beta-Globin Gene Cluster Revealed a Higher Prevalence of the Turkish Inversion/Deletion (delta beta)(0) Mutation in Antalya
(Galenos Yayincilik, 2016)Objective: Although the calculated carrier frequency for point mutations of the beta-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the beta-globin ...