A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.
Vallée
D
D
Chevrier
E
E
Graham
G E
GE
Lazzaro
M A
MA
Lavigne
P A
PA
Hunter
A G
AG
Picketts
D J
DJ
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D017398:Alternative Splicing / Q000235:genetics*; D001483:Base Sequence; D002170:Canada; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D002466:Cell Nucleolus / Q000378:metabolism; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D006367:HeLa Cells; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011132:Polyribosomes / Q000235:genetics / Q000378:metabolism; D021381:Protein Transport; D012097:Repressor Proteins; D013577:Syndrome
D002352:Carrier Proteins; C502542:PHF6 protein, human; D012097:Repressor Proteins