Novel Mutation in ABCA3 Resulting in Fatal Congenital Surfactant Deficiency in Two Siblings

Authors :: Joseph de Nanassy
Matthew A. Lines
Gregory P Moore
Michael T. Geraghty
Thomas Kovesi
Source :: American Journal of Respiratory and Critical Care Medicine. 189:750-752
Publication Year :: 2014
Publisher :: American Thoracic Society, 2014.

Subjects :: Pulmonary and Respiratory Medicine
Pediatrics
medicine.medical_specialty
Resuscitation
biology
Surfactant deficiency
business.industry
Respiratory disease
ABCA3
Critical Care and Intensive Care Medicine
medicine.disease
Intensive care
Mutation (genetic algorithm)
medicine
biology.protein
Sibling
business
Novel mutation

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