PMID- 10436378
OWN - NLM
STAT- MEDLINE
DCOM- 19990921
LR  - 20171101
IS  - 0001-5652 (Print)
IS  - 0001-5652 (Linking)
VI  - 49
IP  - 4
DP  - 1999 Jul
TI  - Identification of a new transthyretin variant (Ile49) in familial amyloidotic
      polyneuropathy using electrospray ionization mass spectrometry and nonisotopic
      RNase cleavage assay.
PG  - 186-9
AB  - Mutation of the transthyretin (TTR) plasma protein and gene in a Japanese patient
      with amyloid polyneuropathy was investigated by electrospray ionization mass
      spectrometry (ESI-MS) and nonisotopic RNase cleavage assay (NIRCA), respectively.
      ESI-MS analysis showed normal TTR peaks and additionally a variant TTR with
      12-dalton-higher molecular weight than normal TTR. NIRCA suggested that the
      mutation existed near either the 5' or 3' end of exon 3. Direct DNA sequencing
      revealed both a normal ACC (threonine) and a variant ATC (isoleucine) at codon
      49, which was located near the 5' end of exon 3. The molecular weight shift of
      this mutation was 12 D, consistent with the result of ESI-MS.
FAU - Nakamura, M
AU  - Nakamura M
AD  - Department of Medical and Molecular Genetics, Indiana University School of
      Medicine, Indianapolis, IN 46202-5251, USA.
FAU - Yamashita, T
AU  - Yamashita T
FAU - Ando, Y
AU  - Ando Y
FAU - Hamidi Asl, K
AU  - Hamidi Asl K
FAU - Tashima, K
AU  - Tashima K
FAU - Ohlsson, P
AU  - Ohlsson P
FAU - Kususe, Y
AU  - Kususe Y
FAU - Benson, M D
AU  - Benson MD
LA  - eng
GR  - DK42111/DK/NIDDK NIH HHS/United States
GR  - DK49596/DK/NIDDK NIH HHS/United States
GR  - RR-00750/RR/NCRR NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Switzerland
TA  - Hum Hered
JT  - Human heredity
JID - 0200525
RN  - 0 (Prealbumin)
RN  - 0 (RNA, Messenger)
RN  - EC 3.1.- (Ribonucleases)
SB  - IM
MH  - Aged
MH  - Amyloid Neuropathies/*genetics
MH  - Female
MH  - *Genetic Variation
MH  - Humans
MH  - Mass Spectrometry/*methods
MH  - Polymerase Chain Reaction
MH  - Prealbumin/*genetics
MH  - RNA, Messenger/metabolism
MH  - Restriction Mapping
MH  - Ribonucleases/*metabolism
MH  - Sequence Analysis, DNA
EDAT- 1999/08/07 00:00
MHDA- 1999/08/07 00:01
CRDT- 1999/08/07 00:00
PHST- 1999/08/07 00:00 [pubmed]
PHST- 1999/08/07 00:01 [medline]
PHST- 1999/08/07 00:00 [entrez]
AID - 22872 [pii]
AID - 10.1159/000022872 [doi]
PST - ppublish
SO  - Hum Hered. 1999 Jul;49(4):186-9. doi: 10.1159/000022872.