New

Adult Alleles DNA Mutational Analysis / methods Female Gene Frequency / genetics Genotype Humans Male Middle Aged Mutation / genetics Phenotype alpha 1-Antitrypsin / genetics alpha 1-Antitrypsin Deficiency / genetics
PI*S allele SERPINA1 genetic mutations alpha-1 antitrypsin polymerization

Journal

American journal of respiratory cell and molecular biology
ISSN: 1535-4989
Titre abrégé: Am J Respir Cell Mol Biol
Pays: United States
ID NLM: 8917225

Informations de publication

Date de publication:
10 2020
Historique:
pubmed: 10 6 2020
medline: 24 11 2020
entrez: 10 6 2020
Statut: ppublish

Résumé

Alpha-1 antitrypsin deficiency (AATD) is an inherited condition characterized by reduced levels of serum AAT due to mutations in the

Identifiants

DOI: 10.1165/rcmb.2020-0021OC PMID: 32515985
pubmed: 32515985
doi: 10.1165/rcmb.2020-0021OC
doi:

Substances chimiques

alpha 1-Antitrypsin 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

444-451

Commentaires et corrections

Type : CommentIn

Auteurs

Nerea Matamala (N)

Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.

Gema Gomez-Mariano (G)

Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.

Jose Antonio Perez (JA)

Área de Genética, Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna, Tenerife, Spain.

Beatriz Baladrón (B)

Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.

María Torres-Durán (M)

Servicio de Neumología, Hospital Álvaro Cunqueiro, Estructura Organizativa de Xestión Integrada Vigo, Pneumovigo I + i, Instituto de Investigación Sanitaria Galicia Sur, Vigo, Spain.

Francisco Javier Michel (FJ)

Servicio de Neumología, and.

Raquel Saez (R)

Genetica e Inmunología, Hospital Universitario Donostia, País Vasco, Spain.

Jose María Hernández-Pérez (JM)

Servicio de Neumología, Hospital General de la Palma, Canarias, Spain.

Irene Belmonte (I)

Biochemistry Department, Hospital Vall d'Hebron, Barcelona, Spain.

Francisco Rodriguez-Frias (F)

Biochemistry Department, Hospital Vall d'Hebron, Barcelona, Spain.

Ignacio Blanco (I)

Registro Español de Pacientes con Déficit de Alfa-1 Antitripsina, Fundación Española, de Pulmón, Respira, Sociedad Española de Neumología y Cirugía Torácica, Barcelona, Spain.

Pavel Strnad (P)

Department of Internal Medicine III, University Hospital Aachen, Aachen, Germany.

Sabina Janciauskiene (S)

Department of Respiratory Medicine, Biomedical Research in Endstage and Obstructive Lung Disease Hannover, Member of the German Center for Lung Research, Hannover Medical School, Hannover, Germany; and.

Beatriz Martinez-Delgado (B)

Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
ORCID: 0000-0001-6834-350X

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › New
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › New
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Analyse de mutations d'ADN › New
questionsmedicales.fr › Phénomènes génétiques › Fréquence d'allèle › New
questionsmedicales.fr › Phénomènes génétiques › Génotype › New
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › New
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › New
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › New
questionsmedicales.fr › Phénomènes génétiques › Phénotype › New
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › alpha-1-Antitrypsine › New
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Emphysème › Emphysème sous-cutané › Déficit en alpha-1-antitrypsine › New