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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)
Carta científica
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
Alpha-1 Antitrypsin Deficiency Associated with the PI*Q0ourém Allele in a 2-Year-old Girl and Family Study. An Unusual Case
Ramón Antonio Tubío-Péreza,d,
Corresponding author
Ramon.Antonio.Tubio.Perez@sergas.es

Autor para correspondencia.
, 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, España
b Unidad de Citogenética y Genética Molecular, Servicio de Análisis Clínicos, EOXI de Vigo, Vigo, Pontevedra, España
c Grupo de Investigación Neumovigo I+i, Instituto de Investigación Biosanitaria Galicia Sur, Vigo, Pontevedra, España
d Centro galego Alfa-1-antitripsina, Galicia, España

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Carta científica
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
Alpha-1 Antitrypsin Deficiency Associated with the PI*Q0ourém Allele in a 2-Year-old Girl and Family Study. An Unusual Case
Ramón Antonio Tubío-Péreza,d,
Corresponding author
Ramon.Antonio.Tubio.Perez@sergas.es

Autor para correspondencia.
, 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, España
b Unidad de Citogenética y Genética Molecular, Servicio de Análisis Clínicos, EOXI de Vigo, Vigo, Pontevedra, España
c Grupo de Investigación Neumovigo I+i, Instituto de Investigación Biosanitaria Galicia Sur, Vigo, Pontevedra, España
d Centro galego Alfa-1-antitripsina, Galicia, España
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ISSN: 03002896
Original language: Spanish
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