Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family

OBJECTIVES: To identify genetic variation involved in primary microcephaly. METHODS: In present study we identified 4 generation Saudi family showing primary microcephaly. We performed whole exome sequencing along with Sanger sequencing to find the genetic defect in this family. This study was condu...

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Salvato in:
Dettagli Bibliografici
Pubblicato in:Neurosciences (Riyadh)
Autori principali: Naseer, Muhammad I., Rasool, Mahmood, Abdulkareem, Angham A., Bassiouni, Randa I., Algahtani, Hussein, Chaudhary, Adeel G., Al-Qahtani, Mohammad H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Riyadh : Armed Forces Hospital 2018
Soggetti:
Brief Communication
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8015564/
https://ncbi.nlm.nih.gov/pubmed/30351297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.17712/nsj.2018.4.20180095
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