TY  - GEN
AU  - Villablanca,A
AU  - Calender,A
AU  - Forsberg,L
AU  - Höög,A
AU  - Cheng,J-D
AU  - Petillo,D
AU  - Bauters,C
AU  - Kahnoski,K
AU  - Ebeling,T
AU  - Salmela,P
AU  - Richardson,A-L
AU  - Delbridge,L
AU  - Meyrier,A
AU  - Proye,C
AU  - Carpten,J D
AU  - Teh,B T
AU  - Robinson,B G
AU  - Larsson,C
TI  - Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)
SN  - 1468-6244
PY  - 2004///0615
KW  - Adult
KW  - Aged
KW  - Amino Acid Sequence
KW  - Child
KW  - DNA Mutational Analysis
KW  - Female
KW  - France
KW  - Genes, Tumor Suppressor
KW  - Germ-Line Mutation
KW  - genetics
KW  - Humans
KW  - Hyperparathyroidism
KW  - Male
KW  - Middle Aged
KW  - Mosaicism
KW  - Mutation
KW  - Pedigree
KW  - Proteins
KW  - chemistry
KW  - Proto-Oncogene Proteins
KW  - Receptors, Calcium-Sensing
KW  - Tumor Suppressor Proteins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2003.012369
ER  -