De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Grozeva, Detelina
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. [electronic resource] - American journal of human genetics Apr 2014 - 618-24 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2014.03.006 doi
Adolescent
Child
Chromosome Deletion
Chromosomes, Human, Pair 3
Humans
Intellectual Disability--genetics
Male
Methyltransferases--genetics
Mutation
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. [electronic resource] - American journal of human genetics Apr 2014 - 618-24 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2014.03.006 doi
Adolescent
Child
Chromosome Deletion
Chromosomes, Human, Pair 3
Humans
Intellectual Disability--genetics
Male
Methyltransferases--genetics
Mutation