PMID- 10211412
OWN - NLM
STAT- MEDLINE
DCOM- 19990609
LR  - 20191103
IS  - 1350-6129 (Print)
IS  - 1350-6129 (Linking)
VI  - 6
IP  - 1
DP  - 1999 Mar
TI  - A new amyloidogenic transthyretin variant (Val122Ala) found in a compound
      heterozygous patient.
PG  - 54-8
AB  - A new TTR variant, Val122Ala, was characterized in an individual who carried the 
      Gly6Ser polymorphism on the opposite allele. The main clinical feature of this
      familial transthyretin amyloidosis (ATTR) variant is extensive cardiomyopathy.
      The detection and characterization of the variant were performed using a
      combination of isoelectric focusing (IEF), restriction fragment length
      polymorphism (RFLP), immunoprecipitation, electrospray ionization mass
      spectrometry (ESIMS), HPLC (high performance liquid chromatography)/ESIMS, and
      matrix-assisted laser desorption/ionization mass spectrometry (MALDIMS). The
      results were confirmed by DNA analysis. The propositus has a brother who carries 
      the new variant but not the polymorphism.
FAU - Theberge, R
AU  - Theberge R
AD  - Mass Spectrometry Resource, Boston University School of Medicine, MA 02118, USA.
FAU - Connors, L
AU  - Connors L
FAU - Skare, J
AU  - Skare J
FAU - Skinner, M
AU  - Skinner M
FAU - Falk, R H
AU  - Falk RH
FAU - Costello, C E
AU  - Costello CE
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 (Amyloid)
RN  - 0 (Prealbumin)
RN  - HG18B9YRS7 (Valine)
RN  - OF5P57N2ZX (Alanine)
SB  - IM
EIN - Amyloid 1999 Sep;6(3):214
MH  - Alanine/*genetics
MH  - Amyloid/*biosynthesis
MH  - Amyloidosis/genetics/physiopathology
MH  - Female
MH  - *Heterozygote
MH  - Humans
MH  - Isoelectric Focusing
MH  - Male
MH  - Mass Spectrometry
MH  - Middle Aged
MH  - Pedigree
MH  - Polymorphism, Restriction Fragment Length
MH  - Prealbumin/chemistry/*genetics
MH  - Valine/*genetics
EDAT- 1999/04/22 00:00
MHDA- 1999/04/22 00:01
CRDT- 1999/04/22 00:00
PHST- 1999/04/22 00:00 [pubmed]
PHST- 1999/04/22 00:01 [medline]
PHST- 1999/04/22 00:00 [entrez]
AID - 10.3109/13506129908993288 [doi]
PST - ppublish
SO  - Amyloid. 1999 Mar;6(1):54-8. doi: 10.3109/13506129908993288.