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., ...Daha Fazla

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

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 9
• Basım Tarihi: 2014
• Doi Numarası: 10.1186/s13023-014-0171-z
• Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Hacettepe Üniversitesi Adresli: Evet

Özet

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