A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome.
Wheway
J M
JM
Yau
S C
SC
Nihalani
V
V
Ellis
D
D
Irving
M
M
Splitt
M
M
Roberts
R G
RG
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000595:Amino Acid Sequence; D001483:Base Sequence; D001766:Blindness / Q000473:pathology; D019457:Chromosome Breakage / Q000235:genetics; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D041321:Chromosomes, Human, X / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D053577:Interleukin-1 Receptor Accessory Protein; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017472:Receptors, Interleukin-1 / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D013577:Syndrome; D014158:Transcription, Genetic
D016189:Dystrophin; C407643:IL1RAPL1 protein, human; D053577:Interleukin-1 Receptor Accessory Protein; D017472:Receptors, Interleukin-1; D004247:DNA