PMID- 9846954
OWN - NLM
STAT- MEDLINE
DCOM- 19990211
LR  - 20191102
IS  - 0946-2716 (Print)
IS  - 0946-2716 (Linking)
VI  - 76
IP  - 12
DP  - 1998 Nov-Dec
TI  - A novel germline mutation in exon 5 of the multiple endocrine neoplasia type 1 
      gene.
PG  - 837-9
AB  - The autosomal dominant multiple endocrine neoplasia type 1 (MEN1) syndrome is 
      characterized by neoplasia of parathyroids, anterior pituitary, and 
      gastrointestinal and pancreatic neuroendocrine tissues. Recently the gene 
      responsible for the MEN1 syndrome has been identified on chromosome region 11q13. 
      Most of the described mutations are nucleotide substitutions and small deletions 
      affecting exons 2 and 3, causing protein truncation. Only one mutation in exon 5 
      has been found, and this corresponds to a MEN1 sporadic case. Small insertions 
      are also rare. We studied a MENI family composed of five members, two of whom 
      were clinically affected. We found a new germline 1 basepair insertional mutation 
      affecting the exon 5 of the MEN1 gene in the two members affected in this MEN1 
      family.
FAU - Chico, A
AU  - Chico A
AD  - Department of Endocrinology, Hospital de la Santa Creu i Sant Pau, Universitat 
      Autonoma de Barcelona, Spain.
FAU - Gallart, L
AU  - Gallart L
FAU - Mato, E
AU  - Mato E
FAU - Mayoral, C
AU  - Mayoral C
FAU - Martin-Campos, J M
AU  - Martin-Campos JM
FAU - Catasus, L
AU  - Catasus L
FAU - Rodriguez-Espinosa, J
AU  - Rodriguez-Espinosa J
FAU - Matias-Guiu, X
AU  - Matias-Guiu X
FAU - Blanco-Vaca, F
AU  - Blanco-Vaca F
FAU - de Leiva, A
AU  - de Leiva A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - J Mol Med (Berl)
JT  - Journal of molecular medicine (Berlin, Germany)
JID - 9504370
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - *Exons
MH  - Female
MH  - Frameshift Mutation
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
MH  - *Proto-Oncogene Proteins
EDAT- 1998/12/10 00:00
MHDA- 1998/12/10 00:01
CRDT- 1998/12/10 00:00
PHST- 1998/12/10 00:00 [pubmed]
PHST- 1998/12/10 00:01 [medline]
PHST- 1998/12/10 00:00 [entrez]
AID - 10.1007/s001090050288 [doi]
PST - ppublish
SO  - J Mol Med (Berl). 1998 Nov-Dec;76(12):837-9. doi: 10.1007/s001090050288.