Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome

OBJECTIVE: In the present study, we have investigated the genetic status of CTSC gene in a HMS subject, who along with her parents belonged to non-Jewish South Indian Dravidian community. MATERIALS AND METHODS: Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was ampli...

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Detalles Bibliográficos
Autores principales: Aswath, Nalini, Swamikannu, Bhuminathan, Ramakrishnan, Sankar Narayanan, Shanmugam, Rajendran, Thomas, Jayakar, Ramanathan, Arvind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4054037/
https://www.ncbi.nlm.nih.gov/pubmed/24966751
http://dx.doi.org/10.4103/1305-7456.126250

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4054037/
https://www.ncbi.nlm.nih.gov/pubmed/24966751
http://dx.doi.org/10.4103/1305-7456.126250

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