Human chromosome 4 sequencing and Single nucleotide polymorphism (SNP) Analysis of an achondroplasia individual.

dc.contributor.author	Ling Sze, Lee
dc.date.accessioned	2018-10-15T06:49:30Z
dc.date.available	2018-10-15T06:49:30Z
dc.date.issued	2011-02
dc.description.abstract	Achondroplasia adalah penyebab paling umum kekerdilan manusia yang beranggota pendek dan mempengaruhi seramai 250,000 orang di seluruh dunia. Penyakit genetik ini menyebabkan pelbagai komplikasi dari segi sosial dan perubatan. Kebanyakan kes achondroplasia berlaku secara rawak dan disebabkan oleh mutasi de novo. Gangguan autosomal-dominan ini disebabkan oleh mutasi tunggal dalam gen reseptor jenis 3 faktor pertumbuhan fibroblas (FGFR3). Achondroplasia is the most common cause of short-limbed dwarfism in humans, affecting 250,000 individuals worldwide. This genetic disorder results in various social and medical complications. The majority of achondroplasia cases is sporadic and result from de novo mutations. This autosomal-dominant disorder is caused by single nucleotide mutations in the gene encoding the type 3 receptor for fibroblast growth factor (FGFR3).	en_US
dc.identifier.uri	http://hdl.handle.net/123456789/6768
dc.language.iso	en	en_US
dc.publisher	Universiti Sains Malaysia	en_US
dc.subject	Chromosome	en_US
dc.subject	Individual	en_US
dc.title	Human chromosome 4 sequencing and Single nucleotide polymorphism (SNP) Analysis of an achondroplasia individual.	en_US
dc.type	Thesis	en_US

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