Survival of an infant with homozygous surfactant protein C (SFTPC) mutation-Reference-Cited by-同舟云学术

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Survival of an infant with homozygous surfactant protein C (SFTPC) mutation

Published:2013-12-17 Issue:3 Volume:49 Page:E112-E115
ISSN:8755-6863
Container-title:Pediatric Pulmonology
language:en
Short-container-title:Pediatr Pulmonol.

Author:

Arıkan-Ayyıldız Zeynep¹,Caglayan-Sozmen Sule¹,Isık Sakine¹,Deterding Robin²,Dishop Megan K.³,Couderc Remy⁴,Epaud Ralph⁵⁶⁷,Louha Malek⁴,Uzuner Nevin¹

Affiliation:

1. Faculty of Medicine; Department of Pediatric Allergy and Pulmonology; Dokuz Eylul University; Izmir Turkey

2. Department of Pediatric Pulmonology; The Children's Hospital Colorado; University of Colorado; Aurora Colorado

3. Department of Pathology; The Children's Hospital Colorado; University of Colorado; Aurora Colorado

4. AP-HP; Hôpital Armand Trousseau; Service de Biochimie-Génétique Moléculaire; Paris France

5. Service de Pédiatrie; Centre Hospitalier Intercommunal de Créteil; Créteil France

6. Inserm, U955, Equipe 11; Créteil France

7. Faculté de Médecine; Université Paris-Est; Créteil France

Funder

none reported

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ppul.22976/fullpdf

Reference11 articles.

1. A mutation in the surfactant protein C gene associated with familial interstitial lung disease;Nogee;N Eng J Med,2001

2. Genetic mutations of surfactant protein C are a rare cause of sporadic cases of IP;Lawson;Thorax,2004

3. Genetic disorders of surfactant dysfunction;Wert;Pediatr Dev Pathol,2009

4. A common mutation in the surfactant protein C gene associated with lung disease;Cameron;J Pediatr,2005

5. High-resolution structure of a BRICHOS domain and its implications for anti-amyloid chaperone activity on lung surfactant protein C;Willander;Proc Natl Acad Sci USA,2012

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