Načítá se...
Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental defect that is characterized by reduced head circumference at birth along with non-progressive intellectual disability. Till date, 25 genes related to MCPH have been reported so far in humans. The ASPM (abnormal spindle-like, mi...
Uloženo v:
| Vydáno v: | Front Pediatr |
|---|---|
| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Frontiers Media S.A.
2021
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7904689/ https://ncbi.nlm.nih.gov/pubmed/33643967 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.627122 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|