Identification and in Silico Structural Analysis for the First De Novo Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Protein in Iran: Case Report and Developmental Insight Using Microsatellite Markers.
THERAPEUTIC ADVANCES IN RESPIRATORY DISEASE（2024）
关键词
autosomal recessive disorder,case report,CFTR mutation,cystic fibrosis,genetic counseling,microsatellite marker,pediatric diagnosis,pulmonary disease
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