Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.
Khajuria
Rajni
R
Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, 110029, New Delhi, India. rajni.khajuria@gmail.com
Sapra
Savita
S
Ghosh
Manju
M
Gupta
Neerja
N
Ghulati
Sheffali
S
Kalra
Veena
V
Kabra
Madhulika
M
D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007194:India; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D016254:Mutagenesis, Insertional; D015518:Rett Syndrome / Q000235:genetics*
D003062:Codon; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2