Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

Bougeard G; Limacher JM; Martin C; Charbonnier F; Killian A; Delattre O; Longy M; Jonveaux P; Fricker JP; Stoppa-Lyonnet D; Flaman JM; Frebourg T

首页> 外文期刊>Journal of Medical Genetics >Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

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Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

机译：在17个法国人患有Li-Fraumeni或Li-Fraumeni综合征的家庭中检测11种种系失活的TP53突变以及不存在TP63和HCHK2突变。

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来源
《Journal of Medical Genetics》 |2001年第4期|共5页
作者
Bougeard G; Limacher JM; Martin C; Charbonnier F; Killian A; Delattre O; Longy M; Jonveaux P; Fricker JP; Stoppa-Lyonnet D; Flaman JM; Frebourg T;
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正文语种 eng
中图分类基础医学;
关键词
Germ-Line Mutation; Li-Fraumeni Syndrome; Phosphoproteins; Protein Kinases; 生殖细胞系突变; Li-Fraumeni综合征; 磷蛋白类; 蛋白激酶类; 蛋白质P53; 反式作用因子;

机译：Germ-Line Mutation;Li-Fraumeni Syndrome;Phosphoproteins;Protein Kinases;生殖细胞系突变;Li-Fraumeni综合征;磷蛋白类;蛋白激酶类;蛋白质P53;反式作用因子;

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1. Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome. [J] . Bougeard G, Limacher JM, Martin C, Journal of Medical Genetics . 2001,第4期

机译：在17个法国人患有Li-Fraumeni或Li-Fraumeni综合征的家庭中检测11种种系失活的TP53突变以及不存在TP63和HCHK2突变。
2. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. [J] . Ruijs MW, Verhoef S, Rookus MA, Journal of Medical Genetics . 2010,第6期

机译：TP53生殖系突变测试在180个疑似Li-Fraumeni综合征的家庭中进行：不同家族表型的癌症突变检测率和相对频率。
3. Response to "Germline TP53 R337H mutation is not sufficient to establish Li-Fraumeni or Li-Fraumeni-like syndrome", by Ribeiro et al. [J] . Maria Isabel Waddington Achatz, Magali Olivier, Florence LeCalvez, Cancer letters . 2007,第2期

机译：Ribeiro等人对“ Germline TP53 R337H突变不足以建立Li-Fraumeni或Li-Fraumeni样综合征”的反应。
4. One germline mutation of PTCH gene in a Chinese family with non-syndromic keratocystic odontogenic tumours [C] . X. Wang, Y. Lu, G. Shen, Academic Committee Conference of Shanghai key lab of stomatology . 2011

机译：非综合征性角化囊性牙源性肿瘤的中国家庭中PTCH基因的一个种系突变
5. Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome [O] . G. BOUGEARD, J. LIMACHER, C. MARTIN, 2001

机译：检测17个患有Li-Fraumeni或Li-Fraumeni综合征的法国家庭的11种种质失活的TP53突变以及TP63和HCHK2突变的缺失
6. Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome [O] . BOUGEARD, G., LIMACHER, J., MARTIN, C., 2001

机译：检测17个患有Li-Fraumeni或Li-Fraumeni综合征的法国家庭的11种种质失活的TP53突变以及TP63和HCHK2突变的缺失

Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

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