Novel Mutation inABCA3Resulting in Fatal Congenital Surfactant Deficiency in Two Siblings-Reference-Cited by-同舟云学术

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Novel Mutation inABCA3Resulting in Fatal Congenital Surfactant Deficiency in Two Siblings

Published:2014-03-15 Issue:6 Volume:189 Page:750-752
ISSN:1073-449X
Container-title:American Journal of Respiratory and Critical Care Medicine
language:en
Short-container-title:Am J Respir Crit Care Med

Author:

Moore Gregory P.,Lines Matthew A.,Geraghty Michael T.,de Nanassy Joseph,Kovesi Thomas

Publisher

American Thoracic Society

Subject

Critical Care and Intensive Care Medicine,Pulmonary and Respiratory Medicine

Reference13 articles.

1. ABCA3Gene Mutations in Newborns with Fatal Surfactant Deficiency

2. Clinical, radiological and pathological features of ABCA3 mutations in children

3. Ultrastructure of Lamellar Bodies in Congenital Surfactant Deficiency

4. Deficiency of Lamellar Bodies in Alveolar Type II Cells Associated with Fatal Respiratory Disease in a Full-term Infant

5. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury;Pathology;2024-02

2. Systematic review of drug effects in humans and models with surfactant-processing disease;European Respiratory Review;2018-07-11

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