Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi*ZQ0gaia - Q0gaia allele
Fuente:
Redalyc
Saved in:
| Main Author: | M.J. Oliveira |
|---|---|
| Format: | Artículo científico |
| Language: | en |
| Published: |
Sociedade Portuguesa de Pneumologia
2015
|
| Subjects: | |
| Online Access: | |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
saida-caballero/gaia_50pc: Initial Release
by: Rhiannon Hicks, et al.
Published: (2025)
by: Rhiannon Hicks, et al.
Published: (2025)
Second Report of the p.Leu874Pro Missense Variant in EPHB4 in a Family With Capillary Malformation‐Arteriovenous Malformation Syndrome (CM‐AVM) Syndrome
by: Laura E. Goeser, et al.
Published: (2024)
by: Laura E. Goeser, et al.
Published: (2024)
Resistência e criação de uma gaia ciência em tempos líquidos
by: Paula Henning
Published: (2012)
by: Paula Henning
Published: (2012)
Políticas sobre la tierra y la deuda. Variaciones sobre gaia
by: Adrián Cangi
Published: (2019)
by: Adrián Cangi
Published: (2019)
O pensamento da gaia educação e a formação de um outro educador
by: Laisa Blancy Guarienti
Published: (2020)
by: Laisa Blancy Guarienti
Published: (2020)
Nietzsche e a arte: gaia ciência como possível antídoto contra o niilismo
by: ADRIANY FERREIRA DE MENDONÇA
Published: (2022)
by: ADRIANY FERREIRA DE MENDONÇA
Published: (2022)
Alcohol consumption and liver phenotype of individuals with alpha‐1 antitrypsin deficiency
by: Malin Fromme, et al.
Published: (2024)
by: Malin Fromme, et al.
Published: (2024)
Regarding: Alpha‐1 antitrypsin deficiency associated with increased risks of skin cancer, leukemia, and hepatic cancer: A nationwide cohort study
by: Malin Fromme, et al.
Published: (2024)
by: Malin Fromme, et al.
Published: (2024)
Amor fati e eterno retorno no livro IV de “A gaia ciência”: uma interpretação estética da existência
by: Roberta Franco Saavedra
Published: (2018)
by: Roberta Franco Saavedra
Published: (2018)
A novel RHD allele caused by c.767 C>T mutation was identified in a Chinese individual
by: Hongjuan Lyu, et al.
Published: (2024)
by: Hongjuan Lyu, et al.
Published: (2024)
Increased risk of nonmelanoma skin cancer in patients with alpha‐1 antitrypsin deficiency: A nationwide cohort study
by: Nanna J. Korsbæk, et al.
Published: (2024)
by: Nanna J. Korsbæk, et al.
Published: (2024)
Association of circulating Z‐polymer with adverse clinical outcomes and liver fibrosis in adults with alpha‐1 antitrypsin deficiency
by: Malin Fromme, et al.
Published: (2024)
by: Malin Fromme, et al.
Published: (2024)
Two novel mutations ( c.878T>C and c.1316delA ) in CD36 alleles lead to CD36 antigen deficiency
by: Honghong He, et al.
Published: (2025)
by: Honghong He, et al.
Published: (2025)
A novel missense variant c. 674T >C (p. Leu225Pro ) underlies the A el phenotype in a Chinese blood donor
by: Jue Hou, et al.
Published: (2026)
by: Jue Hou, et al.
Published: (2026)
Epidemiology and outcomes of alpha‐1 antitrypsin deficiency in Sweden 2002–2020: A population‐based cohort study of 2286 individuals
by: Staffan Wahlin, et al.
Published: (2025)
by: Staffan Wahlin, et al.
Published: (2025)
A serologic weak D caused by a novel RHD allele with single nucleotide c. 209G >C variation predicted to encode p. Arg70Pro
by: Evelyne Heng, et al.
Published: (2025)
by: Evelyne Heng, et al.
Published: (2025)
Placental polyp: a rare cause of iron deficiency anemia
by: Fernando Peixoto Ferraz de Campos
Published: (2011)
by: Fernando Peixoto Ferraz de Campos
Published: (2011)
18F-DOPA PET/TC para el diagnóstico del hiperinsulinismo congénito
by: M.J. Bastianello
Published: (2017)
by: M.J. Bastianello
Published: (2017)
Long-term oxygen therapy (LTOT) revisited: In defense of traditional LTOT systems
by: M.J. Kampelmacher
Published: (2012)
by: M.J. Kampelmacher
Published: (2012)
Sellado con alcohol al 70% en la infección asociada a catéter en nutrición parenteral domiciliaria
by: M.J. Aguilella-Vizcaíno
Published: (2012)
by: M.J. Aguilella-Vizcaíno
Published: (2012)
A novel RHD allele caused by the c.1142G>A mutation identified in a serologic Del phenotype in a Chinese Han male donor
by: Xiao Hao, et al.
Published: (2025)
by: Xiao Hao, et al.
Published: (2025)
Dihydropyrimidine dehydrogenase deficiency as a cause of fatal 5-Fluorouracil toxicity
by: Shiraz S. Fidai
Published: (2018)
by: Shiraz S. Fidai
Published: (2018)
Prevalence of late-onset pompe disease in Portuguese patients with diaphragmatic paralysis --- DIPPER study
by: M.J. Guimarães
Published: (2017)
by: M.J. Guimarães
Published: (2017)
wendy1031/AVP-Pro: AVP-Pro v1.0.0
by: wendy1031
Published: (2026)
by: wendy1031
Published: (2026)
Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia
by: Margarita Giraldo-Chica
Published: (2015)
by: Margarita Giraldo-Chica
Published: (2015)
El papel del farmacéutico en la gestión de la seguridad de los medicamentos diez años después de la publicación del informe) "Errar es humano"
by: M.J. Otero López
Published: (2010)
by: M.J. Otero López
Published: (2010)
Interacción mortal entre colchicina y claritromicina
by: M.J. Izquierdo Pajuelo
Published: (2010)
by: M.J. Izquierdo Pajuelo
Published: (2010)
Identification of an exosite at the neutrophil elastase/alpha‐1‐antitrypsin interface
by: Roberto Gangemi, et al.
Published: (2025)
by: Roberto Gangemi, et al.
Published: (2025)
Sobre la hipótesis de la tierra rara como solución a la paradoja de Fermi: desde la humildad copernicana hasta la gratitud ante gaia y el asombro activo
by: Germán Bula
Published: (2022)
by: Germán Bula
Published: (2022)
Perfil psicosocial de pacientes ingresados por intoxicación aguda voluntaria
by: M.J. Tabernero
Published: (2003)
by: M.J. Tabernero
Published: (2003)
Definición de caso sospechoso de gripe A(H1N1) 2009: razones para la discordancia
by: MJ. Purriños Hermida
Published: (2010)
by: MJ. Purriños Hermida
Published: (2010)
Análisis de la impartición de la asignatura "las drogas" a licenciaturas de formación humanística y técnica
by: M.J. González-Muñoz
Published: (2005)
by: M.J. González-Muñoz
Published: (2005)
Referência a aprovação de comissão de ética e a consentimento dos doentes na Revista Portuguesa de Pneumologia e noutras revistas médicas portuguesas com fator de impacto
by: M.J. Bernardes
Published: (2012)
by: M.J. Bernardes
Published: (2012)
Dual resistance mechanisms in EMS ‐induced rice: ACCase Trp1999Leu mutation and metabolic resistance to quizalofop‐ p ‐ethyl
by: Bin Chen, et al.
Published: (2025)
by: Bin Chen, et al.
Published: (2025)
Evaluacion de las alteraciones conductuales y dopaminergicas en ratones con bajas concentraciones de plomo.
by: M.J. Gandur
Published: (2001)
by: M.J. Gandur
Published: (2001)
CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus‐Ataxia, and Sensorimotor Neuropathy
by: Rossella Bove, et al.
Published: (2025)
by: Rossella Bove, et al.
Published: (2025)
Latent mutations in the ancestries of alleles under selection
by: Fan, Wai-Tong Louis, et al.
Published: (2023)
by: Fan, Wai-Tong Louis, et al.
Published: (2023)
Sarcoma pleomórfico primário do pulmão - 11 anos de sobrevivência
by: M.J. Gonçalves
Published: (2011)
by: M.J. Gonçalves
Published: (2011)
Analysis of the effectiveness of an antiemetic protocol used in an oncology division
by: M.J. Huertas-Fernández
Published: (2010)
by: M.J. Huertas-Fernández
Published: (2010)
Identification of a novel c.77T>G mutation on the ABO*B.01 allele associated with a B subtype
by: Xiao Hao, et al.
Published: (2024)
by: Xiao Hao, et al.
Published: (2024)
Similar Items
-
saida-caballero/gaia_50pc: Initial Release
by: Rhiannon Hicks, et al.
Published: (2025) -
Second Report of the p.Leu874Pro Missense Variant in EPHB4 in a Family With Capillary Malformation‐Arteriovenous Malformation Syndrome (CM‐AVM) Syndrome
by: Laura E. Goeser, et al.
Published: (2024) -
Resistência e criação de uma gaia ciência em tempos líquidos
by: Paula Henning
Published: (2012) -
Políticas sobre la tierra y la deuda. Variaciones sobre gaia
by: Adrián Cangi
Published: (2019) -
O pensamento da gaia educação e a formação de um outro educador
by: Laisa Blancy Guarienti
Published: (2020)