Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement
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چکیده
منابع مشابه
Cardiac Involvement in Mild Cystic Fibrosis Lung Involvement Assessed by Tissue‐Doppler Echocardiography
Background:Cystic Fibrosis (CF) is a systemic disease affecting extra pulmonary dysfunction as a result of CF-related lung disease. Because of lack of enough studies in this field and utilization of TDE in this field, we aimed to evaluate t...
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To cite: Burt H, Andronikou S, LangtonHewer S. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015214288 DESCRIPTION A 17-year-old boy was diagnosed with cystic fibrosis at age 6 years. Genetic analysis revealed homozygous ΔF508 mutations. His first abdominal ultrasound was performed in March 2012 as part of the annual cystic fibrosis review. This demonstrated an...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 1999
ISSN: 1059-7794,1098-1004
DOI: 10.1002/(sici)1098-1004(1999)13:2<173::aid-humu20>3.0.co;2-3