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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Abstracts … Esicon 2021
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067855/
http://dx.doi.org/10.4103/2230-8210.342230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067855/
http://dx.doi.org/10.4103/2230-8210.342230

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