Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis

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Hildebrandt J., Yalcin E., Bresser H., Cinel G., Gappa M., Haghighi A., ...More

ORPHANET JOURNAL OF RARE DISEASES, vol.9, 2014 (SCI-Expanded, Scopus)

• Publication Type: Article / Article
• Volume: 9
• Publication Date: 2014
• Doi Number: 10.1186/s13023-014-0171-z
• Journal Name: ORPHANET JOURNAL OF RARE DISEASES
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Hacettepe University Affiliated: Yes

Abstract

Background: Juvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide.