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...

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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Bal, J, Stuhrmann, M, Schloesser, M, Schmidtke, J, Reiss, J
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 1991
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017062/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1682496/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.10.715
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