No abstract available
MeSH terms
-
Dwarfism / genetics
-
Fetal Growth Retardation / genetics
-
Humans
-
Introns
-
Inverted Repeat Sequences
-
Microcephaly / genetics
-
Mutation
-
Osteochondrodysplasias / genetics
-
RNA Precursors / genetics
-
RNA Precursors / metabolism
-
RNA Splicing*
-
RNA, Messenger / genetics
-
RNA, Messenger / metabolism
-
RNA, Small Nuclear / chemistry
-
RNA, Small Nuclear / genetics*
-
RNA, Small Nuclear / metabolism
-
Ribonucleoproteins, Small Nuclear / metabolism*
-
Spliceosomes / genetics*
-
Spliceosomes / metabolism
Substances
-
RNA Precursors
-
RNA, Messenger
-
RNA, Small Nuclear
-
Ribonucleoproteins, Small Nuclear
-
U12 small nuclear RNA
-
U4 small nuclear RNA
Supplementary concepts
-
Microcephalic osteodysplastic primordial dwarfism, type 1