Polyalanine expansion of ARX associated with cryptogenic West syndrome.
Kato
M
M
Department of Human Genetics, The University of Chicago, IL 60637, USA.
Das
S
S
Petras
K
K
Sawaishi
Y
Y
Dobyns
W B
WB
D003434:Crossing Over, Genetic; D005091:Exons / Q000235:genetics; D020440:Gene Duplication; D018398:Homeodomain Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010455:Peptides / Q000737:chemistry; D017354:Point Mutation; D020449:Repetitive Sequences, Amino Acid; D013036:Spasms, Infantile / Q000235:genetics*; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics* / Q000502:physiology
C469264:ARX protein, human; D018398:Homeodomain Proteins; D010455:Peptides; D014157:Transcription Factors; C019529:polyalanine