Francesco Iemolo Federica Pizzo Giuseppe Albeggiani Carmela Zizzo Paolo Colomba Simone Scalia Caterina Bartolotta Giovanni Duro
10.1186/1756-0500-7-11
BMC Res Notes
2014 Jan 7;7:11.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24398019/
Amino Acid Substitution Fabry Disease / genetics Germ-Line Mutation Mutation, Missense Point Mutation alpha-Galactosidase / genetics
Amino Acid Substitution Fabry Disease / genetics Germ-Line Mutation Mutation, Missense Point Mutation alpha-Galactosidase / genetics Case Reports Adult Amino Acid Sequence Child Conserved Sequence Enzyme Replacement Therapy Fabry Disease / complications Fabry Disease / diagnosis Fabry Disease / drug therapy Female Humans Kidney Failure, Chronic / etiology Male Pedigree Protein Folding Sequence Alignment Sequence Homology, Amino Acid Stroke / etiology Symptom Assessment Thrombophilia / genetics alpha-Galactosidase / chemistry alpha-Galactosidase
PMC3892097
24398019
De novo mutation in a male patient with Fabry disease: a case report
2014