PMID- 11336326
OWN - NLM
STAT- MEDLINE
DCOM- 20010510
LR  - 20190513
IS  - 0368-2811 (Print)
IS  - 0368-2811 (Linking)
VI  - 31
IP  - 3
DP  - 2001 Mar
TI  - A novel germline mutation of the MEN1 gene, L259del, in a patient with sporadic 
      multiple endocrine neoplasia type 1 (MEN1).
PG  - 125-7
AB  - A Japanese woman was treated for insulinoma when she was 29 years old. Ten years 
      later, heperparathyroidism and non-functioning adrenal tumor were found and she 
      was diagnosed as having multiple endocrine neoplasia type 1 (MEN1). No other 
      family members have developed MEN-related lesion(s). Genomic DNA of the patient 
      was analyzed by sequencing for the MEN1 gene and a novel, three-base in-frame 
      deletion resulting in deletion of an amino acid Leu259 was identified. Her two 
      children showed a wild-type sequence at this codon.
FAU - Hai, N
AU  - Hai N
AD  - Department of Laboratory Medicine, Kyoto University School of Medicine, Japan.
FAU - Muto, G
AU  - Muto G
FAU - Okamoto, H
AU  - Okamoto H
FAU - Tamada, A
AU  - Tamada A
FAU - Abe, R
AU  - Abe R
FAU - Suzuki, S
AU  - Suzuki S
FAU - Kosugi, S
AU  - Kosugi S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Jpn J Clin Oncol
JT  - Japanese journal of clinical oncology
JID - 0313225
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Female
MH  - Gene Deletion
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Pedigree
MH  - *Proto-Oncogene Proteins
EDAT- 2001/05/05 10:00
MHDA- 2001/05/22 10:01
CRDT- 2001/05/05 10:00
PHST- 2001/05/05 10:00 [pubmed]
PHST- 2001/05/22 10:01 [medline]
PHST- 2001/05/05 10:00 [entrez]
AID - 10.1093/jjco/hye021 [doi]
PST - ppublish
SO  - Jpn J Clin Oncol. 2001 Mar;31(3):125-7. doi: 10.1093/jjco/hye021.