ABCC7 p.Ala1025Asp
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PMID: 15744829
[PubMed]
Schrijver I et al: "Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis."
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TABLE I. Summary of Patient Genotypes and Phenotypes Patient 1 Patient 2 Patient 3 Genotype 4330delTG/3206 C > A, A1025D 405 þ 1G > A/1001 þ 3A > T 738G > A, W202X/738G > A, W202X Presenting features Hyponatremic hypochloremic metabolic alkalosis at 4 months FTT, pneumonia, hyponatremic hypochloremic metabolic alkalosis at 4 months FTT, pneumonia, hyponatremic hypochloremic metabolic alkalosis at 4 months Sweat chloride QPIT: 62 meq/L QPIT: 60 meq/L QPIT test not done due to acute illness Pancreatic insufficiency No Yes Yes Pulmonary symptoms No major symptoms at 4 months Respiratory infections Respiratory failure and sepsis.
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ABCC7 p.Ala1025Asp 15744829:65:114
status: NEW