A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.
Chunshu
Y
Y
Endoh
K
K
Soutome
M
M
Kawamura
R
R
Kubota
T
T
D001483:Base Sequence; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007564:Japan; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology; D017422:Sequence Analysis, DNA
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2