Reply to 'contribution of the MRPS22 variant and a down mosaic to the phenotype'
Metab Brain Dis
.
2018 Dec;33(6):1779-1780.
doi: 10.1007/s11011-018-0300-9.
Epub 2018 Jul 31.
Authors
Mustafa Kılıç
1
,
Esra Kılıç
2
,
Didem Yücel Yılmaz
3
,
Rıza Köksal Özgül
3
Affiliations
1
Metabolism Unit, Sami Ulus Children Hospital, Babur cad. No: 44, 06080 Altındağ, Ankara, Turkey. kilickorkmaz@yahoo.com.tr.
2
Pediatric Genetic Unit, Pediatric Hematology-Oncology Training and Research Hospital, Ankara, Turkey.
3
Institute of Child Health, Metabolism Unit, Hacettepe University, Ankara, Turkey.
PMID:
30066125
DOI:
10.1007/s11011-018-0300-9
No abstract available
Publication types
Letter
Comment
MeSH terms
Down Syndrome* / genetics
Mitochondrial Proteins
Mutation*
Phenotype*
Ribosomal Proteins
Substances
MRPS22 protein, human
Mitochondrial Proteins
Ribosomal Proteins