Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET.
Kasprzak
L
L
Nolet
S
S
Gaboury
L
L
Pavia
C
C
Villabona
C
C
Rivera-Fillat
F
F
Oriola
J
J
Foulkes
W D
WD
D000483:Alleles; D018276:Carcinoma, Medullary / Q000235:genetics* / Q000473:pathology; D003315:Cornea / Q000294:innervation* / Q000473:pathology; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D029721:Drosophila Proteins; D005192:Family Health; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology
D029721:Drosophila Proteins; D011518:Proto-Oncogene Proteins; D004247:DNA; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila