Gene symbol: MECP2. Disease: Rett syndrome.
Conforti
F L
FL
Institute of Neurological Science, National Research Council, Mangone, Italy. fl.conforti@isn.cnr.it
Mazzei
R
R
Sprovieri
T
T
Ungaro
C
C
Patitucci
A
A
Magariello
A
A
Gabriele
A L
AL
Bravaccio
C
C
Muglia
M
M
Quattrone
A
A
D019943:Amino Acid Substitution / Q000235:genetics*; D001216:Asparagine / Q000235:genetics; D018389:Codon, Nonsense; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D020125:Mutation, Missense; D015518:Rett Syndrome / Q000235:genetics*
D018389:Codon, Nonsense; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D001216:Asparagine