Ahmed, Iltaf

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. [electronic resource] - Human molecular genetics Jun 2015 - 3172-80 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddv069 doi


Adolescent
Child
Consanguinity
Endoribonucleases--chemistry
Female
Genes, Recessive
Genetic Association Studies
Humans
Intellectual Disability--genetics
Male
Mutation, Missense
Pedigree
Point Mutation
Polymorphism, Single Nucleotide
Protein Isoforms--genetics
RNA Processing, Post-Transcriptional
RNA Splice Sites
RNA, Messenger--genetics
Ribonucleoproteins, Small Nuclear--chemistry
Young Adult