Detection of TPSAB1 copy number variation for the diagnosis of hereditary alpha‐tryptasemia by quantitative PCR

Genetically determining individualized clinical reference ranges for the biomarker tryptase can limit unnecessary procedures and unmask myeloid neoplasms

(2022) Jack Chovanec et al.   Blood Advances

Patients with elevated basal tryptase serum levels should be tested for hereditary alpha-tryptasemia

(2021) D. Spoerl et al.   European Annals of Allergy and Clinical Immunology

Hereditary Alpha-Tryptasemia: UK Prevalence and Variability in Disease Expression

(2020) Rebecca C. Robey et al.   Journal of Allergy and Clinical Immunology-In Practice

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

(2016) Jonathan J Lyons et al.   NATURE GENETICS

A Simple, Sensitive and Safe Method to Determine the Human α/β-Tryptase Genotype

(2014) Quang Trong Le et al.   PLoS One

Comparison of microfluidic digital PCR and conventional quantitative PCR for measuring copy number variation

(2012) Alexandra S. Whale et al.   NUCLEIC ACIDS RESEARCH

Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations

(2009) Neil N. Trivedi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY