PMID- 10395246
OWN - NLM
STAT- MEDLINE
DCOM- 19990803
LR  - 20190905
IS  - 0918-8959 (Print)
IS  - 0918-8959 (Linking)
VI  - 45
IP  - 5
DP  - 1998 Oct
TI  - Detection of a novel nonsense mutation of the MEN1 gene in a familial multiple 
      endocrine neoplasia type 1 patient and its screening in the family members.
PG  - 653-7
AB  - We identified a novel nonsense mutation(R29X) of the MEN1 gene in a familial 
      multiple endocrine neoplasia type 1 (MEN1) patient. Molecular analysis of the 
      MEN1 gene was performed in the family members by a restriction digestion method. 
      The same mutation pattern was seen in both the proband's younger brother and 
      cousin diagnosed as MEN1, and was also observed in the son of the cousin who 
      showed signs of normal levels of serum PTH associated with mild hypercalcemia and 
      hypophosphatemia. These findings suggest that mutation analysis of the MEN1 gene 
      is very useful in identifying the subclinical state of MEN1 as well as clinical 
      MEN1.
FAU - Matsubara, S
AU  - Matsubara S
AD  - First Department of Internal Medicine, Kagawa Medical University, Japan.
FAU - Sato, M
AU  - Sato M
FAU - Ohye, H
AU  - Ohye H
FAU - Iwata, Y
AU  - Iwata Y
FAU - Imachi, H
AU  - Imachi H
FAU - Yokote, R
AU  - Yokote R
FAU - Murao, K
AU  - Murao K
FAU - Miyauchi, A
AU  - Miyauchi A
FAU - Takahara, J
AU  - Takahara J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
RN  - 0 (Parathyroid Hormone)
SB  - IM
MH  - Adult
MH  - Female
MH  - Germ-Line Mutation
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/blood/*genetics
MH  - Parathyroid Hormone/blood
MH  - Parathyroidectomy
MH  - Pedigree
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Restriction Fragment Length
EDAT- 1999/07/08 00:00
MHDA- 1999/07/08 00:01
CRDT- 1999/07/08 00:00
PHST- 1999/07/08 00:00 [pubmed]
PHST- 1999/07/08 00:01 [medline]
PHST- 1999/07/08 00:00 [entrez]
AID - 10.1507/endocrj.45.653 [doi]
PST - ppublish
SO  - Endocr J. 1998 Oct;45(5):653-7. doi: 10.1507/endocrj.45.653.