Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. [electronic resource]
- Human genetics Jun 2007
- 539-47 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0340-6717
10.1007/s00439-007-0343-1 doi
Amino Acid Transport Systems, Neutral--genetics Chromosome Deletion Chromosomes, Human, X Female Humans Intellectual Disability--genetics Male Methyltransferases--genetics Nuclear Proteins--genetics Polymerase Chain Reaction Sex Chromosome Aberrations Siblings X Chromosome Inactivation