Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.
Amir
R E
RE
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA.
Fang
P
P
Yu
Z
Z
Glaze
D G
DG
Percy
A K
AK
Zoghbi
H Y
HY
Roa
B B
BB
Van den Veyver
I B
IB
D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D015518:Rett Syndrome / Q000235:genetics*
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2