Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

Hereditary fructose intolerance (HFI) is a difficult-to-confirm diagnosis, requiring either invasive liver biopsy-enzyme assay or potentially hazardous fructose challenge test or expensive molecular genetic analysis. Therefore, worldwide there has been a trend towards finding “common mutations” in d...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Bijarnia-Mahay, Sunita, Movva, Sireesha, Gupta, Neerja, Sharma, Deepak, Puri, Ratna D., Kotecha, Udhaya, Saxena, Renu, Kabra, Madhulika, Mohan, Neelam, Verma, Ishwar C
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4501232/
https://ncbi.nlm.nih.gov/pubmed/25595217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_374
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