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Vol. 54. Num. 4.April 2018
Pages 175-240
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Vol. 54. Num. 4.April 2018
Pages 175-240
Scientific Letter
DOI: 10.1016/j.arbr.2018.02.007
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
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Ramón Antonio Tubío-Péreza,d,
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, 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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