The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the a-galactosidase A

EM Beyer, EA Karpova, OV Udalova, J.K. Ploos van Amstel, O.P. van Diggelen, IV Tsvetkova

Research output: Contribution to journal › Article › Academic › peer-review

Keywords

@article{3632f849438045f4b1414cfbd589b0be,

title = "The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the a-galactosidase A",

keywords = "Econometric and Statistical Methods: General, Genetics, Geneeskunde(GENK), Overig medisch onderzoek",

author = "EM Beyer and EA Karpova and OV Udalova and {Ploos van Amstel}, J.K. and {van Diggelen}, O.P. and IV Tsvetkova",

year = "1999",

language = "Undefined/Unknown",

volume = "280",

pages = "81--89",

journal = "Clinica Chimica Acta",

issn = "0009-8981",

publisher = "Elsevier",

}

TY - JOUR

T1 - The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the a-galactosidase A

AU - Beyer, EM

AU - Karpova, EA

AU - Udalova, OV

AU - Ploos van Amstel, J.K.

AU - van Diggelen, O.P.

AU - Tsvetkova, IV

PY - 1999

Y1 - 1999

KW - Econometric and Statistical Methods: General

KW - Genetics

KW - Geneeskunde(GENK)

KW - Overig medisch onderzoek

M3 - Article

SN - 0009-8981

VL - 280

SP - 81

EP - 89

JO - Clinica Chimica Acta

JF - Clinica Chimica Acta

ER -