Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal

Respiratory Medicine

Volumn 116, Issue , 2016, Pages 8-18

  Silva, Deolinda ^a   Oliveira, Maria João ^b   Guimarães, Miguel ^b   Lima, Ricardo ^b   Gomes, Sílvia ^a,c   Seixas, Susana ^a,c  

^a UNIVERSITY OF PORTO   (Portugal)

^b CENTRO HOSPITALAR DE VILA NOVA DE GAIA ESPINHO   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

Author keywords

Alpha 1 antitrypsin deficiency; Mutation recurrence; Null alleles; Rare variant distribution; Recombinant alleles

Indexed keywords

ALPHA 1 ANTITRYPSIN; MESSENGER RNA; SERPINA1 PROTEIN, HUMAN;

ARTICLE; CHRONIC OBSTRUCTIVE LUNG DISEASE; CLINICAL ARTICLE; DNA SEQUENCE; EXON; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CHROMOSOME; LUNG DIFFUSION CAPACITY; MISSENSE MUTATION; NULL ALLELE; PORTUGAL; PRIORITY JOURNAL; PROTEIN STRUCTURE; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; COMPLICATION; EPIDEMIOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; LUNG EMPHYSEMA; META ANALYSIS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; SMOKING;

ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; BASE SEQUENCE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; MIDDLE AGED; MUTATION; PORTUGAL; PULMONARY EMPHYSEMA; SMOKING;

EID: 84966293248     PISSN: 09546111     EISSN: 15323064     Source Type: Journal    
DOI: 10.1016/j.rmed.2016.05.002     Document Type: Article

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