Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
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DOI: 10.1183/23120541.00205-2018
Abstract: Diffuse alveolar haemorrhage (DAH) is rare in the paediatric population and the biological mechanisms remain poorly understood [1]. We retrospectively studied 12 children at our centre, identified from our pathology database, with idiopathic DAH between… read more here.
Keywords: whole exome; exome sequencing; diagnosed whole; prolidase deficiency ... See more keywords