Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid

Respiratory Research

Volumn 15, Issue 1, 2014, Pages

  Lara, Beatriz ^a   Martínez, Maria T ^b   Blanco, Ignacio ^c   Hernández Moro, Cristina ^d   Velasco, Eladio A ^d   Ferrarotti, Ilaria ^e   Rodriguez Frias, Francisco ^f   Perez, Laura ^g   Vazquez, Irene ^g   Alonso, Javier ^h   Posada, Manuel ^g   Martínez Delgado, Beatriz ^g  

^a HOSPITAL UNIVERSITARI ARNAU DE VILANOVA   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^c Board of Directors of the Alpha 1 Antitrypsin Deficiency Spanish Registry Lung Foundation Breathe Spanish Society of Pneumology (SEPAR)   (Spain)

^d University of Valladolid   (Spain)

^e UNIVERSITY OF PAVIA   (Italy)

^f HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^g INSTITUTO DE SALUD CARLOS III   (Spain)

^h Instituto de Salud Carlos III   (Spain)

Author keywords

Allelic variants; Alpha 1 antitrypsin; Null alleles; QO alleles, Splicing, Minigenes

Indexed keywords

ALPHA 1 ANTITRYPSIN; THYMINE; SERPINA1 PROTEIN, HUMAN;

ADULT; ALPHA 1 ANTITRYPSIN DEFICIENCY; ALTERNATIVE RNA SPLICING; ARTICLE; BRONCHIECTASIS; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; DYSPNEA; EXON; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HOME OXYGEN THERAPY; HUMAN; INTRON; LUNG EMPHYSEMA; LUNG INJURY; MACROPHAGE; MALE; MENTAL DEFICIENCY; MIDDLE AGED; MOLECULAR CLONING; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; NULL ALLELE; PATHOGENICITY; PI QO MADRID ALLELE; PROTEIN BLOOD LEVEL; QO PORTO ALLELE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SERPINA1 GENE; SIBLING; SITE DIRECTED MUTAGENESIS; SPAIN; WILD TYPE; ALPHA 1-ANTITRYPSIN DEFICIENCY; GENETICS; MUTATION; PEDIGREE; RNA SPLICING;

ADULT; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RNA SPLICING;

EID: 84910031376     PISSN: 14659921     EISSN: 1465993X     Source Type: Journal    
DOI: 10.1186/s12931-014-0125-y     Document Type: Article

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