Spinal Muscular Atrophy Results and Comparison of Commonly Used Methods


Koc A., Bora E., Yiş U., Giray Bozkaya Ö., Ülgenalp A.

GAZI MEDICAL JOURNAL, vol.30, no.4, pp.381-383, 2019 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 4
  • Publication Date: 2019
  • Doi Number: 10.12996/gmj.2019.98
  • Journal Name: GAZI MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.381-383
  • Keywords: Spinal Muscular Atrophy, MLPA, RFLP, SMN1, MOTOR-NEURON GENE, NUSINERSEN, SMA
  • Dokuz Eylül University Affiliated: Yes

Abstract

Aim: We aimed to share our genetic test results for SMA since 2001, and compare the commonly used screening and diagnostic methods for SMA.