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Vol. 54. Issue 4.
Pages 228-230 (April 2018)
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Vol. 54. Issue 4.
Pages 228-230 (April 2018)
Scientific Letter
Alpha-1 Antitrypsin Deficiency Associated with the PI*Q0ourém Allele in a 2-Year-Old Girl and Family Study. An Unusual Case
Descripción de la deficiencia de alfa-1-antitripsina asociada al alelo PI*Q0Ourém en una niña de 2 años de edad y su estudio familiar. Un caso infrecuente
Ramón Antonio Tubío-Péreza,d,
Corresponding author
, Milagros Blanco-Pérezb, Cristina Ramos-Hernándeza,c,d, María Torres-Durána,c,d
a Servicio de Neumología, Hospital Álvaro Cunqueiro, EOXI de Vigo, Vigo, Pontevedra, Spain
b Unidad de Citogenética y Genética Molecular, Servicio de Análisis Clínicos, EOXI de Vigo, Vigo, Pontevedra, Spain
c Grupo de Investigación Neumovigo I+i, Instituto de Investigación Biosanitaria Galicia Sur, Vigo, Pontevedra, Spain
d Centro galego Alfa-1-antitripsina, Galicia, Spain

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Scientific Letter
Alpha-1 Antitrypsin Deficiency Associated with the PI*Q0ourém Allele in a 2-Year-Old Girl and Family Study. An Unusual Case
Descripción de la deficiencia de alfa-1-antitripsina asociada al alelo PI*Q0Ourém en una niña de 2 años de edad y su estudio familiar. Un caso infrecuente
Ramón Antonio Tubío-Péreza,d,
Corresponding author
, Milagros Blanco-Pérezb, Cristina Ramos-Hernándeza,c,d, María Torres-Durána,c,d
a Servicio de Neumología, Hospital Álvaro Cunqueiro, EOXI de Vigo, Vigo, Pontevedra, Spain
b Unidad de Citogenética y Genética Molecular, Servicio de Análisis Clínicos, EOXI de Vigo, Vigo, Pontevedra, Spain
c Grupo de Investigación Neumovigo I+i, Instituto de Investigación Biosanitaria Galicia Sur, Vigo, Pontevedra, Spain
d Centro galego Alfa-1-antitripsina, Galicia, Spain
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ISSN: 15792129
Original language: English
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