Nonsense Mutations in Folliculin Presenting as Isolated Familial Spontaneous Pneumothorax in Adults

Abstract excerpt

RATIONALE: Approximately 10% of patients who have a spontaneous pneumothorax have a positive family history. OBJECTIVES: We sought to identify DNA sequence variations that confer susceptibility to pneumothoraces. METHODS: We collected 12 families that had at least 2 first-degree relatives with a spontaneous pneumothorax. All affected family members had no obvious stigmata of known genetic disorders associated...

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