PMID- 10439117
OWN - NLM
STAT- MEDLINE
DCOM- 19990914
LR  - 20191103
IS  - 1350-6129 (Print)
IS  - 1350-6129 (Linking)
VI  - 6
IP  - 2
DP  - 1999 Jun
TI  - A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a 
      Portuguese patient.
PG  - 114-8
AB  - The detection and characterization of a new transthyretin (ATTR) variant,
      Ser23Asn, associated with cardiomyopathy in a Portuguese patient with familial
      amyloidosis is described. Isoelectric focusing (IEF) of serum from the propositus
      demonstrated heterozygosity for the presence of wild type and variant ATTR. A
      combination of mass spectrometric (MS) analyses, including electrospray
      ionization mass spectrometry (ESI MS), high performance liquid chromatography
      (HPLC)/ESI MS and matrix-assisted laser desorption/ionization mass spectrometry
      (MALDI MS) performed on the serum-derived TTR were used to identify and locate
      the amino acid replacement in the variant protein. Genetic mutation analysis by
      DNA sequencing and allele-specific PCR confirmed this finding.
FAU - Connors, L H
AU  - Connors LH
AD  - Amyloid Treatment and Research Program, Boston University School of Medicine
      02118, USA. lconnors@bu.edu
FAU - Theberge, R
AU  - Theberge R
FAU - Skare, J
AU  - Skare J
FAU - Costello, C E
AU  - Costello CE
FAU - Falk, R H
AU  - Falk RH
FAU - Skinner, M
AU  - Skinner M
LA  - eng
GR  - P41-RR10888/RR/NCRR NIH HHS/United States
GR  - S10-RR10493/RR/NCRR NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Amyloid
JT  - Amyloid : the international journal of experimental and clinical investigation : 
      the official journal of the International Society of Amyloidosis
JID - 9433802
RN  - 0 (Prealbumin)
RN  - 452VLY9402 (Serine)
RN  - 7006-34-0 (Asparagine)
SB  - IM
MH  - Adult
MH  - *Amino Acid Substitution
MH  - Amyloidosis/*genetics
MH  - Asparagine/chemistry/genetics
MH  - Chromatography, High Pressure Liquid
MH  - Humans
MH  - Immunoelectrophoresis
MH  - Isoelectric Focusing
MH  - Male
MH  - Polymorphism, Restriction Fragment Length
MH  - Portugal
MH  - Prealbumin/*chemistry/genetics
MH  - Serine/chemistry/genetics
MH  - Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
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 - 10.3109/13506129909007311 [doi]
PST - ppublish
SO  - Amyloid. 1999 Jun;6(2):114-8. doi: 10.3109/13506129909007311.