PMID- 10090526
OWN - NLM
STAT- MEDLINE
DCOM- 19990517
LR  - 20190706
IS  - 0009-8981 (Print)
IS  - 0009-8981 (Linking)
VI  - 280
IP  - 1-2
DP  - 1999 Feb
TI  - The multiple cases of Fabry disease in a Russian family caused by an E341K amino 
      acid substitution in the alpha-galactosidase A.
PG  - 81-9
AB  - A large Russian family with multiple cases of Fabry disease in several
      generations is presented. Fourteen family members were clinico-biochemically
      examined. Among 12 adult children (19-32 years old) of one couple, five sons
      manifested angiokeratotic skin lesions and other Fabry symptoms. Biochemical
      studies including an enzyme assay, the analysis of glycosphingolipid excretion
      and isoelectric focusing of a patient leukocyte extract allowed us to identify
      Fabry disease in four affected brothers and to establish the heterozygous status 
      of their mother. The analysis of genomic DNA of four patients and their mother
      revealed a novel E341K missense mutation caused by a G to A transition (codon 341
      GAA-AAA) in the alpha-galactosidase A gene.
FAU - Beyer, E M
AU  - Beyer EM
AD  - Institute of Biomedical Chemistry, Russian Academy of Medical Sciences, Moscow.
FAU - Karpova, E A
AU  - Karpova EA
FAU - Udalova, O V
AU  - Udalova OV
FAU - Ploos van Amstel, J K
AU  - Ploos van Amstel JK
FAU - van Diggelen, O P
AU  - van Diggelen OP
FAU - Tsvetkova, I V
AU  - Tsvetkova IV
LA  - eng
PT  - Journal Article
PL  - Netherlands
TA  - Clin Chim Acta
JT  - Clinica chimica acta; international journal of clinical chemistry
JID - 1302422
RN  - EC 3.2.1.22 (alpha-Galactosidase)
SB  - IM
MH  - Adult
MH  - Amino Acid Substitution
MH  - Child, Preschool
MH  - Fabry Disease/enzymology/*ethnology/genetics
MH  - Female
MH  - Humans
MH  - Infant
MH  - Male
MH  - Middle Aged
MH  - Pedigree
MH  - Russia
MH  - alpha-Galactosidase/*genetics
EDAT- 1999/03/25 00:00
MHDA- 1999/03/25 00:01
CRDT- 1999/03/25 00:00
PHST- 1999/03/25 00:00 [pubmed]
PHST- 1999/03/25 00:01 [medline]
PHST- 1999/03/25 00:00 [entrez]
AID - S0009-8981(98)00133-8 [pii]
AID - 10.1016/s0009-8981(98)00133-8 [doi]
PST - ppublish
SO  - Clin Chim Acta. 1999 Feb;280(1-2):81-9. doi: 10.1016/s0009-8981(98)00133-8.