Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis-Reference-Cited by-同舟云学术

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis

Published:2014-11-26 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Hildebrandt Jenna,Yalcin Ebru,Bresser Hans-Georg,Cinel Guzin,Gappa Monika,Haghighi Alireza,Kiper Nural,Khalilzadeh Soheila,Reiter Karl,Sayer John,Schwerk Nicolaus,Sibbersen Anke,Van Daele Sabine,Nübling Georg,Lohse Peter,Griese Matthias

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0171-z.pdf

Reference23 articles.

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2. Hamvas A, Cole FS, Nogee LM: Genetic disorders of surfactant proteins. Neonatology. 2007, 91: 311-317. 10.1159/000101347.

3. Dirksen U, Nishinakamura R, Groneck P, Hattenhorst U, Nogee L, Murray R, Burdach S: Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression. J Clin Invest. 1997, 100: 2211-2217. 10.1172/JCI119758.

4. Suzuki T, Maranda B, Sakagami T, Catellier P, Couture CY, Carey BC, Chalk C, Trapnell BC: Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations. Eur Respir J. 2011, 37: 201-204. 10.1183/09031936.00090610.

5. Wang T, Lazar CA, Fishbein MC, Lynch JP: Pulmonary alveolar proteinosis. Semin Respir Crit Care Med. 2012, 33: 498-508. 10.1055/s-0032-1325160.

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