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Alpha-1 antitrypsin deficiency associated with the Mmalton variant. Description of a family. 2016

Juan Marco Figueira Gonçalves, and Francisco Martínez Bugallo, and David Díaz Pérez, and María Dolores Martín Martínez, and Ignacio García-Talavera
Servicio de Neumología y Cirugía Torácica, Hospital Universitario Nuestra Señora de la Candelaria, Santa Cruz de Tenerife, Tenerife, España. Electronic address: juanmarcofigueira@gmail.com.

UI MeSH Term Description Entries
D008099 Liver A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. Livers
D008168 Lung Either of the pair of organs occupying the cavity of the thorax that effect the aeration of the blood. Lungs
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D004417 Dyspnea Difficult or labored breathing. Orthopnea,Platypnea,Recumbent Dyspnea,Rest Dyspnea,Trepopnea,Breathlessness,Shortness of Breath,Breath Shortness,Dyspnea, Recumbent,Dyspnea, Rest,Dyspneas, Rest
D005260 Female Females
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000073869 Tobacco Smoking The process of SMOKING specific to TOBACCO. Smoking, Tobacco
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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