X inactivation testing for identifying a non-syndromic X-linked mental retardation gene

Abstract

The purpose of this study was to identify a gene causing non-syndromic X-linked mental retardation in an extended family, taking advantage of the X chromosome inactivation status of the females in order to determine their carrier state. X inactivation in the females was determined with the androgen receptor methylation assay; thereafter, the X chromosome… (More)
DOI: 10.1007/s13353-011-0052-2

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