Characterisation of LDL receptor gene mutations in a North Indian cohort of children with homozygous familial hypercholesterolaemia

BACKGROUND: Homozygous familial hypercholesterolaemia (HoFH) carries a grave prognosis but is often underdiagnosed and undertreated. Confirmation of molecular diagnosis helps in planning effective management and determining prognosis accurately. AIM OF THE STUDY: To determine the spectrum of mutatio...

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Detalles Bibliográficos
Autores principales: Singh, Shagun, Singh, Minu, Dayal, Devi, Bhatia, Prateek, Negi, Sandeep, Attri, Savita V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2021
Materias:
Original paper | Praca oryginalna
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227482/
https://www.ncbi.nlm.nih.gov/pubmed/33599434
http://dx.doi.org/10.5114/pedm.2020.103056

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227482/
https://www.ncbi.nlm.nih.gov/pubmed/33599434
http://dx.doi.org/10.5114/pedm.2020.103056

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