Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients.
Kárteszi
Judit
J
Hollódy
Katalin
K
Bene
Judit
J
Morava
Eva
E
Hadzsiev
Kinga
K
Czakó
Márta
M
Melegh
Béla
B
Tészás
Alexandra
A
Kosztolányi
György
G
D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D006801:Humans; D006814:Hungary; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation; D020125:Mutation, Missense; D012097:Repressor Proteins / Q000235:genetics*; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology; D017384:Sequence Deletion
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins