Relevant bibliographies by topics / Mmalton varian

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  2. Dissertations / Theses

Academic literature on the topic 'Mmalton varian'

Author: Grafiati
Published: 4 June 2021
Last updated: 18 February 2022

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Journal articles on the topic "Mmalton varian"

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Figueira Gonçalves, J. M., F. Martínez Bugallo, D. Díaz Pérez, M. D. Martín Martínez, I. García-Talavera, and R. Pitti Pérez. "Clinical manifestations of the Mmalton alpha-1 antitrypsin deficiency variant." Pulmonology 24, no. 1 (2018): 48–49. http://dx.doi.org/10.1016/j.rppnen.2017.11.004.

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Canva, Valérie, Sandrine Piotte, Jean-Pierre Aubert та ін. "Heterozygous M3Mmalton α1-Antitrypsin Deficiency Associated with End-Stage Liver Disease: Case Report and Review". Clinical Chemistry 47, № 8 (2001): 1490–96. http://dx.doi.org/10.1093/clinchem/47.8.1490.

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Abstract α1-Antitrypsin (α1AT) deficiency is an autosomal recessive disorder that can cause pulmonary emphysema and liver disease. We report here the case of a 59-year-old woman who was admitted to hospital for evaluation of jaundice. She had no history of hepatitis or childhood liver disease. She had never received a blood transfusion, nor had she abused drugs or alcohol. Transjugular liver biopsy was then performed and revealed a micronodular cirrhosis. Ten months later, because of persistent liver cell failure and ascites, she underwent an orthotopic liver transplantation. Investigation of
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Reid, Cynthia L., Gregory J. Wiener, Diane W. Cox, Joel E. Richter та Kim R. Geisinger. "Diffuse hepatocellular dysplasia and carcinoma associated with the Mmalton variant of α1-antitrypsin". Gastroenterology 93, № 1 (1987): 181–87. http://dx.doi.org/10.1016/0016-5085(87)90332-5.

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Figueira Gonçalves, Juan Marco, Francisco Martínez Bugallo, David Díaz Pérez, María Dolores Martín Martínez, and Ignacio García-Talavera. "Alpha-1 Antitrypsin Deficiency Associated With the Mmalton Variant. Description of a Family." Archivos de Bronconeumología (English Edition) 52, no. 12 (2016): 617–18. http://dx.doi.org/10.1016/j.arbr.2016.05.017.

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Jung, Chan-Hun, Young Kee Chae та Hana Im. "Suppression of the facile latency transition of α1-antitrypsin variant Mmalton by stabilizing mutations". Biochemical and Biophysical Research Communications 325, № 3 (2004): 744–50. http://dx.doi.org/10.1016/j.bbrc.2004.10.098.

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Belmonte, Irene, Miriam Barrecheguren, Rosa M. López-Martínez, et al. "Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach." International Journal of Chronic Obstructive Pulmonary Disease Volume 11 (October 2016): 2535–41. http://dx.doi.org/10.2147/copd.s115940.

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Belmonte, Irene, Luciana Montoto, Marc Miravitlles та ін. "Rapid detection of Mmalton α1-antitrypsin deficiency allele by real-time PCR and melting curves in whole blood, serum and dried blood spot samples". Clinical Chemistry and Laboratory Medicine (CCLM) 54, № 2 (2016). http://dx.doi.org/10.1515/cclm-2015-0297.

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AbstractαWe tested the applicability of this new technique for the identification of the Mmalton allele in AATD screening using whole blood, dried blood spot (DBS) and serum samples. Mmalton heterozygote and homozygote samples and samples without this allele were included in the study.This new assay is able to detect homozygous and heterozygous genotypes in the same reaction and in a single step, giving matching results with those obtained byThis technology is optimal for working with small amounts of DNA, such as in DBS and even with residual DNA present in serum samples, allowing improvement
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Bidla, Gawa, David S. Rosenblatt, and Brian M. Gilfix. "Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting." Journal of Applied Laboratory Medicine, December 17, 2020. http://dx.doi.org/10.1093/jalm/jfaa191.

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Abstract Background Alpha-1-antitrypsin deficiency (AATD) is one of the most common hereditary disorders occurring in populations of European origin and is due to variants in SERPINA1, which encodes a protease inhibitor of neutrophil elastase, limiting lung damage from this enzyme. The World Health Organization has recommended that individuals with chronic obstructive pulmonary disease and asthma be tested for AATD. The development of inexpensive and simple genetic testing will help to meet this goal. Methods Primers and synthetic SERPINA1 gene fragments (gBlocks) were designed for 5 AATD-asso
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Dissertations / Theses on the topic "Mmalton varian"

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Belmonte, Mula Irene. "Actualización del algoritmo de diagnóstico de laboratorio del déficit de alfa-1-antitripsina: incorporación de la detección genotípica de la variante deficitaria Mmalton y utilización de muestras alternativas a la sangre total." Doctoral thesis, Universitat Autònoma de Barcelona, 2017. http://hdl.handle.net/10803/457763.

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El déficit de alfa-1-antitripsina (DAAT) es una enfermedad genética que se caracteriza por la presencia de niveles bajos de la proteína alfa-1-antitripsina (AAT) en suero y causa principalmente desarrollo temprano de enfisema pulmonar y hepatopatía. Se han descrito alrededor de 125 variantes alélicas del gen de la AAT. El alelo normal más común en la población es el M, y las variantes deficitarias más frecuentes son la S y la Z, siendo esta última causante de un déficit severo. Sin embargo, otra variante deficitaria rara, llamada Mmalton, causante de un déficit similar al alelo Z, es consider
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