An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.
Pearson
Toni
T
The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, Canada.
Curtis
Fiona
F
Al-Eyadhy
Ayman
A
Al-Tamemi
Salem
S
Mazer
Bruce
B
Dror
Yigal
Y
Abish
Sharon
S
Bale
Sherri
S
Compton
John
J
Ray
Reena
R
Scott
Patrick
P
Der Kaloustian
Vazken M
VM
D000015:Abnormalities, Multiple / Q000235:genetics*; D019943:Amino Acid Substitution; D018797:Cell Cycle Proteins / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics*; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D013577:Syndrome
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; D022821:RNA Splice Sites