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Abstract 109: Long-range PCRs and MLPA for molecular analysis of large rearrangements in 21 hydroxylase deficiency
Background: Genetics of 21 hydroxylase deficiency is complex with pseudogene derived point mutations and rearrangements in the CYP21A2 gene. 20-30% of these mutations are due to large 30kb deletion forming chimeric genes and large gene conversion. In general, MLPA is the choice of technique in molec...
Autores principales: | Ravichandran, Lavanya, Korula, Sophy, Asha, H S, Varghese, Deny, Parthiban, R, Johnson, Jabasteen, Cherian, Kripa Elizabeth, Jebasingh, Felix, Kapoor, Nitin, Mathai, Sarah, Simon, Anna, Rajaratnam, Simon, Paul, Thomas V, Thomas, Nihal, Chapla, Aaron |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067855/ http://dx.doi.org/10.4103/2230-8210.342230 |
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