MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.
Laccone
F
F
Zoll
B
B
Huppke
P
P
Hanefeld
F
F
Pepinski
W
W
Trappe
R
R
D019943:Amino Acid Substitution / Q000235:genetics; D020739:Brain Diseases, Metabolic, Inborn / Q000209:etiology / Q000235:genetics; D002868:Chromosomal Proteins, Non-Histone; D018899:CpG Islands / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D015518:Rett Syndrome / Q000209:etiology / Q000235:genetics
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins