A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.
Teh
B T
BT
Esapa
C T
CT
Houlston
R
R
Grandell
U
U
Farnebo
F
F
Nordenskjöld
M
M
Pearce
C J
CJ
Carmichael
D
D
Larsson
C
C
Harris
P E
PE
D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D002118:Calcium / Q000097:blood; D002648:Child; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics* / Q000601:surgery; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics*; D010282:Parathyroid Neoplasms / Q000235:genetics* / Q000601:surgery; D010375:Pedigree; D011518:Proto-Oncogene Proteins
C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D002118:Calcium