The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data
作者： Charles M. Strom , Joy B. Redman , Mei Peng
DOI: 10.1097/GIM.0B013E318228EFB2
关键词: Population 、 Heterozygote advantage 、 Phenotype 、 Correlation 、 Cystic fibrosis 、 Allele 、 Immunology 、 Genetics 、 Genotype 、 Genetic counseling 、 Medicine
摘要: … 2991G>C) had normal measured sweat gland CFTR activity. A compound heterozygote for p… 2991G>C) as at least one CFTR variant allele. In our series of six compound heterozygous …
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