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

References

Page 1

	Year	Citations
High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number Benjamin J. Hindson, Kevin D. Ness, Donald A Masquelier, Analytical Chemistry	2011	2.7K
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number Jonathan J. Lyons, Xiaomin Yu, Jason D. Hughes, Nature Genetics Basal Serum TryptaseClinical DisordersAllergyAutoimmune DiseasePathology	2016	376
Characterization of Genes Encoding Known and Novel Human Mast Cell Tryptases on Chromosome 16p13.3 Michele Pallaoro, Marlena S. Fejzo, Laleh Shayesteh, Journal of Biological Chemistry	1999	146
Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia Quang Le, Jonathan J. Lyons, Andrea Naranjo, The Journal of Experimental Medicine Mast Cell DisorderGeneticsα-Tryptase Gene CopiesSynaptic SignalingCellular Physiology	2019	116
Clinical characteristics and risk profile of patients with elevated baseline serum tryptase Christina Fellinger, Wolfgang Hemmer, Stefan Wöhrl, Allergologia et Immunopathologia	2014	89
Digital Droplet PCR: CNV Analysis and Other Applications Erica Mazaika, Jason Homsy Current Protocols in Human Genetics	2014	88
Genetic deficiency of human mast cell a‐tryptase D Soto, C. Malmsten, John L. Blount, Clinical & Experimental Allergy	2002	87
Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations Neil N. Trivedi, Bani Tamraz, Catherine Chu, Journal of Allergy and Clinical Immunology AllergyDisease MechanismGenetic DisorderMast Cell DisorderGenetics	2009	71
Familial hypertryptasemia with associated mast cell activation syndrome Vito Sabato, Els Van de Vijver, Margo M. Hagendorens, Journal of Allergy and Clinical Immunology Down SyndromeAutoimmune DiseaseAllergyGenetic DisorderMast Cell Disorder	2014	49

Page 1