Froyen, Guy

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