Fabry or not Fabry--a question of ascertainment
Eur J Hum Genet
.
2011 Nov;19(11):1111.
doi: 10.1038/ejhg.2011.87.
Epub 2011 May 18.
Authors
Gunnar Houge
,
Camilla Tøndel
,
Oyvind Kaarbøe
,
Asle Hirth
,
Leif Bostad
,
Einar Svarstad
PMID:
21587323
PMCID:
PMC3198147
DOI:
10.1038/ejhg.2011.87
No abstract available
Publication types
Letter
MeSH terms
Fabry Disease / diagnosis*
Fabry Disease / genetics
Heterozygote
Humans
Mutation, Missense
alpha-Galactosidase / genetics
Substances
alpha-Galactosidase