UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.

Nascimento, Rafaella M P

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. [electronic resource] - American journal of human genetics Sep 2006 - 549-55 p. digital

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

0002-9297

10.1086/507047 doi


Adult
Amino Acid Sequence
Child, Preschool
Codon, Nonsense--genetics
Conserved Sequence--genetics
DNA Mutational Analysis
Humans
Male
X-Linked Intellectual Disability--genetics
Middle Aged
Molecular Sequence Data
Pedigree
Ubiquitin-Conjugating Enzymes--genetics