PMID- 10439966
OWN - NLM
STAT- MEDLINE
DCOM- 19991019
LR  - 20061115
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 5
DP  - 1999 Jul
TI  - Genetic and clinical analysis in 10 Spanish patients with multiple endocrine 
      neoplasia type 1.
PG  - 585-9
AB  - Multiple endocrine neoplasia type 1 (MEN 1) is characterised by the combination 
      of tumours of the parathyroid, endocrine pancreas and anterior pituitary glands. 
      In 1988 the MEN 1 gene was mapped to chromosome 11q13 and it was cloned in 1997. 
      This gene contains 10 exons and extends across 9 Kb of genomic DNA; it encodes 
      for a product of 610 amino acid named menin whose function is unknown. We have 
      studied 10 unrelated MEN 1 kindreds by a complete sequencing analysis of the 
      entire gene; mutations were identified in nine of them: five deletions, one 
      insertion, two nonsense mutation and a complex alteration consisting of a 
      deletion and an insertion that can be explained by a hairpin loop model. Two of 
      the mutations have been previously described; the other seven were novel, and 
      they were scattered throughout the coding sequence of the gene. As in previous 
      series, no correlation was found between phenotype and genotype.
FAU - Cebrian, A
AU  - Cebrian A
AD  - Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain.
FAU - Herrera-Pombo, J L
AU  - Herrera-Pombo JL
FAU - Diez, J J
AU  - Diez JJ
FAU - Sanchez-Vilar, O
AU  - Sanchez-Vilar O
FAU - Lara, J I
AU  - Lara JI
FAU - Vazquez, C
AU  - Vazquez C
FAU - Pico, A
AU  - Pico A
FAU - Osorio, A
AU  - Osorio A
FAU - Martinez-Delgado, B
AU  - Martinez-Delgado B
FAU - Benitez, J
AU  - Benitez J
FAU - Robledo, M
AU  - Robledo M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 11
MH  - DNA/chemistry/genetics
MH  - Germ-Line Mutation
MH  - Humans
MH  - Molecular Sequence Data
MH  - Multiple Endocrine Neoplasia Type 1/ethnology/*genetics
MH  - Nucleic Acid Conformation
MH  - Spain
EDAT- 1999/08/10 00:00
MHDA- 1999/08/10 00:01
CRDT- 1999/08/10 00:00
PHST- 1999/08/10 00:00 [pubmed]
PHST- 1999/08/10 00:01 [medline]
PHST- 1999/08/10 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200336 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Jul;7(5):585-9. doi: 10.1038/sj.ejhg.5200336.