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Association of less common cystic fibrosis mutations with a mild phenotype.

A majority of cystic fibrosis (CF) genes (70 to 75%) share a single mutation, but the remaining 25 to 30% of defects are accounted for by more than 20 different mutations. One of the less frequent mutations, G551D, has been identified in the CF genes of two sibs and one unrelated adult patient. The...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Med Genet
Egile Nagusiak: Curtis, A, Nelson, R, Porteous, M, Burn, J, Bhattacharya, S S
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 1991
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016744/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1999830/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.1.34
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