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A cystic fibrosis patient homozygous for the nonsense mutation R553X.

A cystic fibrosis patient homozygous for the nonsense mutation R553X was identified by mutation screening and the genotype confirmed by DNA sequencing. This patient, the only one described to date who is homozygous for this stop codon in exon 11 of the CFTR gene, is moderately severely affected. Cli...

詳細記述

保存先:
書誌詳細
主要な著者: Bal, J, Stuhrmann, M, Schloesser, M, Schmidtke, J, Reiss, J
フォーマット: Artigo
言語:Inglês
出版事項: 1991
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017062/
https://ncbi.nlm.nih.gov/pubmed/1682496
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