title: Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.
authors.affiliation: Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, 110029, New Delhi, India. rajni.khajuria@gmail.com
authors.forename: Rajni
authors.initials: R
authors.lastname: Khajuria
authors.forename: Savita
authors.initials: S
authors.lastname: Sapra
authors.forename: Manju
authors.initials: M
authors.lastname: Ghosh
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
authors.forename: Veena
authors.initials: V
authors.lastname: Kalra
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D016368:Frameshift Mutation; D006801:Humans; D007194:India; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D015518:Rett Syndrome / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D003062:Codon; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2