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A rare large mutation involving two exons of the SP-B gene in an infant with severe respiratory distress
Anuk-İnce, Deniz; Takci, Sahin; Louha, Malek; Couderc, Remy; Cakar, Nursen; Koseoglu, Resit Dogan; Ates, Omer (2017)Hereditary surfactant protein-B (SP-B) deficiency is a rare autosomal recessive disease of newborn infants causing severe respiratory failure and death within the first year of life. The most common cause of SP-B deficiency ...