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European Journal of Human Genetics : EJHG|January 27, 2019
Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing dataCarmen Lahuerta Pueyo, Miguel Ángel Aibar Arregui, Anyuli Gracia Gutierrez, et al.
Multiple Sclerosis and Related Disorders|November 13, 2019
Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson-Fabry's diseaseSusana Olivera, Cristina Iñiguez, Lorena García-Fernández, et al.
Frontiers in Public Health|October 26, 2019
Pneumocystis jirovecii in Spanish Patients With Heart FailureIzarbe Merino-Casallo, Vicente Friaza, Sebastián Menao, et al.
International Journal of Cardiology|November 20, 2019
Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution meltingCarmen Lahuerta, Sebastián Menao, Anyuli Gracia-Gutierrez, et al.
Respiratory Care|February 19, 2025
Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein ElectrophoresisJuan José Perales-Afán, Sebastián Menao, Almudena García-Gutiérrez, et al.
Clinical Lung Cancer|November 25, 2025
Germline Mutation Analysis and Real-World Impact in a Selected Cohort of Patients with Non-Small Cell Lung Cancer: INHERITY LC StudyMaría Zurera, Juan Carlos Laguna, Laura Mezquita, et al.
Molecular Genetics and Metabolism|August 19, 2007
Molecular genetics of HMG-CoA lyase deficiencyJuan Pié, Eduardo López-Viñas, Beatriz Puisac, et al.
BMC Research Notes|October 2, 2023
Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosisInmaculada Moreno-Gázquez, Raquel Pérez-Palacios, Lucia Abengochea-Quílez, et al.
Cell Reports|July 15, 2014
Elucidating sources and roles of granzymes A and B during bacterial infection and sepsisMaykel A Arias, María P Jiménez de Bagües, Nacho Aguiló, et al.
Biophysical Chemistry|March 9, 2005
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HLBeatriz Puisac, Eduardo López-Viñas, Susana Moreno, et al.
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