Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.

Jones C; Penny L; Mattina T; Yu S; Baker E; Voullaire L; Langdon WY; Sutherland GR; Richards RI; Tunnacliffe A

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Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.

机译：染色体缺失综合征与原癌基因CBL2中的脆弱位点的关联。

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The fragile site FRA11B has been localized to the p(CCG)n repeat of the CBL2 proto-oncogene. A proportion of Jacobsen (11q-) syndrome patients inherited a chromosome carrying a CBL2 p(CCG)n expansion, which was truncated close to FRA11B. These results have broad implications for the role of p(CCG)n repeat expansion in the aetiology of genetic disease involving chromosome rearrangements.

机译：脆弱的位点FRA11B已定位于CBL2原癌基因的p（CCG）n重复序列。一部分雅各布森（11q-）综合征患者遗传了一条携带CBL2 p（CCG）n扩展的染色体，该染色体在FRA11B附近被截短。这些结果对p（CCG）n重复扩增在涉及染色体重排的遗传疾病的病因学中的作用具有广泛的意义。

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来源
《Nature》 |1995年第6536期|P.145-149|共5页
作者
Jones C; Penny L; Mattina T; Yu S; Baker E; Voullaire L; Langdon WY; Sutherland GR; Richards RI; Tunnacliffe A;
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作者单位

Department of Pathology, University of Cambridge, UK.;

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收录信息美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
原文格式 PDF
正文语种 eng
中图分类自然科学总论;
关键词
Chromosome Deletion; Chromosome Fragility; Chromosomes; Human; Pair 11; Proto-Oncogene Proteins; 染色体缺失; 染色体脆性; 染色体; 人; 11对; 原癌基因蛋白质类;

机译：Chromosome Deletion;Chromosome Fragility;Chromosomes;Human;Pair 11;Proto-Oncogene Proteins;染色体缺失;染色体脆性;染色体;人;11对;原癌基因蛋白质类;

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机译：染色体22q11.2缺失，易碎X或特纳综合征的女孩注意力功能的常见和特定障碍
2. White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging [J] . Villalon-ReinaJ., JahanshadN., BeatonE., NeuroImage . 2013,第Null期

机译：弥散张量成像表明，患有染色体22q11.2缺失综合征，脆性X或特纳综合征的女孩的白质微结构异常
3. Task-switching deficits and repetitive behaviour in genetic neurodevelopmental disorders: Data from children with Prader-Willi syndrome chromosome 15 q11-q13 deletion and boys with Fragile X syndrome [J] . Kate A. Woodcock, Chris Oliver Glyn W. Humphreys Cognitive Neuropsychology . 2009,第2期

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4. The Human Chromosomal Fragile Sites More Often Involved in Constitutional Deletions and Duplications - a Genetic and Statistical Assessment [C] . Dora Prata Gomes, Inês J. Sequeira, Carlos Figueiredo, International Conference of Computational Methods in Sciences and Engineering . 2016

机译：人类染色体脆弱的位点更常见于宪法缺失和重复性 - 遗传和统计评估
5. Chromosomal mapping of genes encoding human Pur-alpha and Pur-beta: Independent and simultaneous deletions in myelodysplastic syndromes and acute myelogenous leukemia. [D] . Lezon-Geyda, Kimberly Ann. 2001

机译：编码人Pur-alpha和Pur-beta的基因的染色体作图：骨髓增生异常综合症和急性骨髓性白血病的独立和同时缺失。
6. Common and specific impairments in attention functioning in girls with chromosome 22q11.2 deletion fragile X or Turner syndromes [O] . Andrea I Quintero, Elliott A Beaton, Danielle J Harvey, 2014

机译：染色体22q11.2缺失易碎X或特纳综合征的女孩注意力功能的常见和特定障碍
7. Common and specific impairments in attention functioning in girls with chromosome 22q11.2 deletion, fragile X or Turner syndromes [O] . Andrea I Quintero, Elliott A Beaton, Danielle J Harvey, 2014

机译：染色体22q11.2缺失，易碎X或特纳综合征的女孩注意力功能的常见和特定障碍

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.

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