PMID 2539398 1989 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
PMID 10666480 1999 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
PMID 16595074 2006 Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
PMID 12786754 2003 Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
PMID 9452111 1998 Mutation analysis in 11 French patients with Fabry disease.
PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
PMID 23860966 2013 Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
PMID 20610207 2010 HFSA 2010 Comprehensive Heart Failure Practice Guideline.
PMID 10838196 2000 Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
PMID 21598360 2011 A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
PMID 2152885 1990 A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
PMID 7596372 1995 An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
PMID 26415523 2016 Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
PMID 11076046 2000 Identification of four novel mutations in five unrelated Korean families with Fabry disease.
PMID 1846223 1991 An atypical variant of Fabry's disease with manifestations confined to the myocardium.
PMID 1315715 1992 Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
PMID 10208848 1999 Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
PMID 9105656 1997 Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
PMID 27142856 2016 Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
PMID 11295840 2001 Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
PMID 8069316 1994 Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
PMID 12735292 2002 Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
PMID 9452090 1998 Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
PMID 2171331 1990 Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
PMID 7504405 1993 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
PMID 7759078 1995 Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.