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Alpha-1 Antitrypsin Deficiency Associated with the PI*Q0ourém Allele in a 2-Year-old Girl and Family Study. An Unusual Case.

Archivos de bronconeumologia - 1 Apr 2018

Tubío-Pérez Ramón Antonio, Blanco-Pérez Milagros, Ramos-Hernández Cristina, Torres-Durán María

Abstract excerpt

No abstract is available from the source.

Topics

Adult
Female
Humans
Infant
Male
Alleles
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency
Codon, Nonsense
Frameshift Mutation
Gene Frequency
Heterozygote
Portugal
Sequence Analysis, DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spain

Source

Identifiers

PMID: 29122334
DOI: 10.1016/j.arbres.2017.09.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Alpha-1 Antitrypsin Deficiency Associated with the PI*Q0ourém Allele in a 2-Year-old Girl and Family Study. An Unusual Case.PMID 29122334Read ↗

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