No abstract available
Publication types
-
Letter
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
Alternative Splicing
-
Anemia, Diamond-Blackfan / genetics*
-
Anemia, Diamond-Blackfan / metabolism
-
Anemia, Diamond-Blackfan / pathology
-
Animals
-
CRISPR-Cas Systems
-
Cell Proliferation
-
Child, Preschool
-
Embryo, Nonmammalian
-
Exome Sequencing
-
Exome*
-
Exons
-
Female
-
Gene Editing
-
Gene Expression
-
Haploinsufficiency*
-
Humans
-
Infant
-
K562 Cells
-
Pedigree
-
Point Mutation*
-
RNA, Ribosomal, 18S / genetics*
-
RNA, Ribosomal, 18S / metabolism
-
Ribosomal Proteins / deficiency
-
Ribosomal Proteins / genetics*
-
Siblings
-
Zebrafish
Substances
-
RNA, Ribosomal, 18S
-
RPS15A protein, human
-
Ribosomal Proteins