Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.
Auricchio
A
A
Griseri
P
P
Carpentieri
M L
ML
Betsos
N
N
Staiano
A
A
Tozzi
A
A
Priolo
M
M
Thompson
H
H
Bocciardi
R
R
Romeo
G
G
Ballabio
A
A
Ceccherini
I
I
D017398:Alternative Splicing / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics; D001483:Base Sequence; D029721:Drosophila Proteins; D004843:Epistasis, Genetic; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin / Q000235:genetics*
D029721:Drosophila Proteins; D011518:Proto-Oncogene Proteins; D012333:RNA, Messenger; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila