Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.
Wadey
R
R
McKie
J
J
Papapetrou
C
C
Sutherland
H
H
Lohman
F
F
Osinga
J
J
Frohn
I
I
Hofstra
R
R
Meijers
C
C
Amati
F
F
Conti
E
E
Pizzuti
A
A
Dallapiccola
B
B
Novelli
G
G
Scambler
P
P
D033942:Adaptor Proteins, Vesicular Transport; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*
D033942:Adaptor Proteins, Vesicular Transport; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C491497:UFD1 protein, human