PMID- 10612836
OWN - NLM
STAT- MEDLINE
DCOM- 20000120
LR  - 20161124
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 15
IP  - 1
DP  - 2000 Jan
TI  - Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families.
PG  - 116
AB  - Hereditary non-polyposis colorectal cancer (HNPCC) is considered to be determined
      by germline mutations in the mismatch repair (MMR) genes, especially MSH2 and
      MLH1. While screening for mutations in these two genes in HNPCC portuguese
      families, 3 previously unreported MSH2 and 1 MLH1 mutations have been identified 
      in families meeting strict Amsterdam criteria. Hum Mutat 15:116, 2000.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Isidro, G
AU  - Isidro G
AD  - Instituto Nacional de Saude Dr. Ricardo Jorge, Lisboa, Portugal. cgh@insarj.pt
FAU - Veiga, I
AU  - Veiga I
FAU - Matos, P
AU  - Matos P
FAU - Almeida, S
AU  - Almeida S
FAU - Bizarro, S
AU  - Bizarro S
FAU - Marshall, B
AU  - Marshall B
FAU - Baptista, M
AU  - Baptista M
FAU - Leite, J
AU  - Leite J
FAU - Regateiro, F
AU  - Regateiro F
FAU - Soares, J
AU  - Soares J
FAU - Castedo, S
AU  - Castedo S
FAU - Boavida, M G
AU  - Boavida MG
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (Carrier Proteins)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (MLH1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - EC 3.6.1.3 (MSH2 protein, human)
RN  - EC 3.6.1.3 (MutL Protein Homolog 1)
RN  - EC 3.6.1.3 (MutS Homolog 2 Protein)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing
MH  - Base Pair Mismatch
MH  - Base Sequence
MH  - Carrier Proteins
MH  - Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics
MH  - *DNA-Binding Proteins
MH  - Humans
MH  - Molecular Sequence Data
MH  - MutL Protein Homolog 1
MH  - MutS Homolog 2 Protein
MH  - Mutation, Missense
MH  - Neoplasm Proteins/*genetics
MH  - Nuclear Proteins
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Portugal
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 1999/12/29 00:00
MHDA- 1999/12/29 00:01
CRDT- 1999/12/29 00:00
PHST- 1999/12/29 00:00 [pubmed]
PHST- 1999/12/29 00:01 [medline]
PHST- 1999/12/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(200001)15:1<116::AID-HUMU24>3.0.CO;2-Q [pii]
AID - 10.1002/(SICI)1098-1004(200001)15:1<116::AID-HUMU24>3.0.CO;2-Q [doi]
PST - ppublish
SO  - Hum Mutat. 2000 Jan;15(1):116. doi:
      10.1002/(SICI)1098-1004(200001)15:1<116::AID-HUMU24>3.0.CO;2-Q.