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Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.

Abstract:

Chromosomal rearrangements involving the ends of chromosomes (telomeres) are emerging as an important cause of human genetic diseases. This review describes the development of first and second generation sets of telomere specific clones, together with advances in fluorescence in situ hybridisation (FISH) technology, which have made the prospect of screening for telomeric rearrangements a realistic goal. Initial FISH studies using the telomere specific clones indicate that they will be a valua...

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Publication status:
Published

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Publisher copy:
10.1136/jmg.37.6.401

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
Journal:
Journal of medical genetics More from this journal
Volume:
37
Issue:
6
Pages:
401-409
Publication date:
2000-06-01
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
Language:
English
Keywords:
Pubs id:
pubs:31695
UUID:
uuid:cd1bc03f-325d-4d99-afb6-2866ae018483
Local pid:
pubs:31695
Source identifiers:
31695
Deposit date:
2012-12-19

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