Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP).
Villablanca
A
A
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden. andrea.villablanca@cmm.ki.se
Calender
A
A
Forsberg
L
L
Höög
A
A
Cheng
J-D
JD
Petillo
D
D
Bauters
C
C
Kahnoski
K
K
Ebeling
T
T
Salmela
P
P
Richardson
A-L
AL
Delbridge
L
L
Meyrier
A
A
Proye
C
C
Carpten
J D
JD
Teh
B T
BT
Robinson
B G
BG
Larsson
C
C
D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005602:France; D016147:Genes, Tumor Suppressor; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009030:Mosaicism / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics; D044169:Receptors, Calcium-Sensing / Q000235:genetics; D025521:Tumor Suppressor Proteins
C095550:CASR protein, human; C454900:CDC73 protein, human; C105373:MEN1 protein, human; D011506:Proteins; D011518:Proto-Oncogene Proteins; D044169:Receptors, Calcium-Sensing; D025521:Tumor Suppressor Proteins