Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia

INTRODUCTION: Achondroplasia is the most common form of skeletal dysplasia of genetic origin in humans which is characterized by disproportionate rhizomelic dwarfism. Heterozygous mutation in the transmembrane domain of the FGFR3 gene (4p16.3) occurs as a de novo mutation in most of the cases. METHO...

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Detalles Bibliográficos
Autores principales: Khanal, Shyam Bahadur, Shrestha, Mitesh, Chaudhary, Hemanta Kumari, Shrestha, Smita, Pokharel, Rohit Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of the Nepal Medical Association 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8997281/
https://www.ncbi.nlm.nih.gov/pubmed/30381765

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