PMID- 15662592
OWN - NLM
STAT- MEDLINE
DCOM- 20050721
LR  - 20131121
IS  - 0947-7349 (Print)
IS  - 0947-7349 (Linking)
VI  - 113
IP  - 1
DP  - 2005 Jan
TI  - Identification of a novel calcium-sensing receptor gene mutation causing familial 
      hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis.
PG  - 31-4
AB  - Calcium-sensing receptor gene (CASR) mutations that alter the function of the G 
      protein coupled Ca (2+)-sensing receptor are reported in patients with familial 
      hypocalciuric hypercalcemia (FHH), autosomal dominant hypocalcemia (ADH), and 
      neonatal severe hyperparathyroidism (NSHPT). In search for novel disease causing 
      mutations in the CASR gene, we screened exons 2 - 7 of the CASR gene of a family 
      with FHH using single-strand conformation polymorphism analysis. We identified a 
      novel CASR mutation (c.518 T > C; L173 P) in exon 4 encoding for the 
      extracellular domain of the Ca (2+)-sensing receptor. This region seems to 
      represent a hot spot within the CASR gene with at least 13 reported disease 
      causing mutations thus far.
FAU - Felderbauer, P
AU  - Felderbauer P
AD  - Department of Internal Medicine I, St. Josef Hospital, Ruhr-University of Bochum, 
      Germany. peter.felderbauer@rub.de
FAU - Hoffmann, P
AU  - Hoffmann P
FAU - Klein, W
AU  - Klein W
FAU - Bulut, K
AU  - Bulut K
FAU - Ansorge, N
AU  - Ansorge N
FAU - Epplen, J T
AU  - Epplen JT
FAU - Schmitz, F
AU  - Schmitz F
FAU - Schmidt, W E
AU  - Schmidt WE
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Exp Clin Endocrinol Diabetes
JT  - Experimental and clinical endocrinology & diabetes : official journal, German 
      Society of Endocrinology [and] German Diabetes Association
JID - 9505926
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 8J337D1HZY (Cytosine)
RN  - QR26YLT7LT (Thymine)
SB  - IM
MH  - Adult
MH  - Case-Control Studies
MH  - Cytosine
MH  - Heterozygote
MH  - Humans
MH  - Hypercalcemia/*genetics
MH  - Hypocalcemia/*genetics
MH  - Male
MH  - *Mutation
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
MH  - Receptors, Calcium-Sensing/*genetics
MH  - Thymine
EDAT- 2005/01/22 09:00
MHDA- 2005/07/22 09:00
CRDT- 2005/01/22 09:00
PHST- 2005/01/22 09:00 [pubmed]
PHST- 2005/07/22 09:00 [medline]
PHST- 2005/01/22 09:00 [entrez]
AID - 10.1055/s-2004-830523 [doi]
PST - ppublish
SO  - Exp Clin Endocrinol Diabetes. 2005 Jan;113(1):31-4. doi: 10.1055/s-2004-830523.