Deteksi mutasi gen p53 germline pada keluarga sindrom li-fraumeni.  

Oleh:

Ahda, Yuni ; Suhana, N.

Jenis: Article from Journal - ilmiah nasional - tidak terakreditasi DIKTI
Dalam koleksi: Jurnal Kedokteran YARSI vol. 10 no. 01 (Jan. 2002), page 39.
Topik: Li-Fraumeny Syndrome; p53 germline; SSCP

Ketersediaan

Perpustakaan PKPM Nomor Panggil: J51 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Li-Fraumeni syndrome is an autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of both a proband with a sarcoma and two other first-degree relatives with a cancer by age 45 years. Approximately 70% of families with LFS is caused by p53 gene mutation. P53 mutant could not do its normal function to arrest at G1 phase of cell cycles or to induce teh cell death program via apoptosis after DNA damage and thereby may attempt replication of damaged genome.

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