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Mutation identification and characterization of a Taiwanese patient with fucosidosis

✍ Scribed by Shuan-Pei Lin; Jui-Hung Chang; Maria Paez de la Cadena; Ting-Fang Chang; Guey-Jen Lee-Chen


Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
172 KB
Volume
52
Category
Article
ISSN
1435-232X

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Identification and characterization of a
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## Abstract Germline mutations in the __p53__ tumor suppressor gene have been identified in patients with Li‐Fraumeni syndrome (LFS) and patients with Li‐Fraumeni‐like syndrome (LFL). However, to date, germline __p53__ mutations in patients not fulfilling the criteria of LFS or LFL have been report