Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11
We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both parents of Georgian and Ukrainian background had no personal or family history o...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Wiley
2014-01-01
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| Rangatū: | Case Reports in Genetics |
| Urunga tuihono: | http://dx.doi.org/10.1155/2014/613863 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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