Pratibha Nair Abdul Rezzak Hamzeh Madiha Mohamed Nafisa Tawfiq Mahmoud Taleb Al-Ali Fatma Bastaki
10.1159/000449225
Med Princ Pract
2016;25(6):580-582.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/27544240/
Mutation / genetics Spinocerebellar Degenerations / genetics
Mutation / genetics Spinocerebellar Degenerations / genetics Case Reports 5' Untranslated Regions / genetics Brain / pathology Child Consanguinity Humans Male Polymerase Chain Reaction Sequence Analysis United Arab Emirates 5' Untranslated Regions
PMC5588509
27544240
Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region
2016