Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.

Authors :: Bourdon V
Philippe C
Bienvenu T
Koenig B
Tardieu M
Chelly J
Jonveaux P
Source :: Journal of medical genetics [J Med Genet] 2001 Dec; Vol. 38 (12), pp. 867-71.
Publication Year :: 2001

Subjects :: Adolescent
Child, Preschool
DNA-Binding Proteins chemistry
Exons genetics
Female
Heteroduplex Analysis
Humans
Infant
Infant, Newborn
Methyl-CpG-Binding Protein 2
Polymerase Chain Reaction
Rett Syndrome pathology
Chromosomal Proteins, Non-Histone
DNA-Binding Proteins genetics
Mosaicism genetics
Mutation genetics
Repressor Proteins
Rett Syndrome diagnosis
Rett Syndrome genetics

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