Mutation analysis of the MECP2 gene in patients with Rett syndrome.
Conforti
Francesca L
FL
Mazzei
Rosalucia
R
Magariello
Angela
A
Patitucci
Alessandra
A
Gabriele
Anna L
AL
Muglia
Maria
M
Quattrone
Aldo
A
Fiumara
Agata
A
Barone
Rita
R
Pavone
Lorenzo
L
Nisticò
Rita
R
Mangone
Loredana
L
D000293:Adolescent; D000328:Adult; D002648:Child; D002868:Chromosomal Proteins, Non-Histone; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins