Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Ramos-Brossier, Mariana
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. [electronic resource] - Human molecular genetics Feb 2015 - 1106-18 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddu523 doi
Adult
Child
Child, Preschool
DNA Mutational Analysis
Exons
Female
Humans
Intellectual Disability--genetics
Interleukin-1 Receptor Accessory Protein--chemistry
Introns
Male
Mutation
Neurogenesis--genetics
Pedigree
Polymorphism, Single Nucleotide
Protein Interaction Domains and Motifs
Protein Transport
Sequence Deletion
Signal Transduction
Synapses--genetics
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. [electronic resource] - Human molecular genetics Feb 2015 - 1106-18 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddu523 doi
Adult
Child
Child, Preschool
DNA Mutational Analysis
Exons
Female
Humans
Intellectual Disability--genetics
Interleukin-1 Receptor Accessory Protein--chemistry
Introns
Male
Mutation
Neurogenesis--genetics
Pedigree
Polymorphism, Single Nucleotide
Protein Interaction Domains and Motifs
Protein Transport
Sequence Deletion
Signal Transduction
Synapses--genetics