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Journal article

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.

Abstract:

We have examined the phenotypic effects of 21 independent deletions from the fully sequenced and annotated 356 kb telomeric region of the short arm of chromosome 16 (16p13.3). Fifteen genes contained within this region have been highly conserved throughout evolution and encode proteins involved in important housekeeping functions, synthesis of haemoglobin, signalling pathways and critical developmental pathways. Although a priori many of these genes would be considered candidates for critical...

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Publication status:
Published

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Publisher copy:
10.1038/sj.ejhg.5200610

Authors


Horsley, SW More by this author
Daniels, RJ More by this author
Anguita, E More by this author
Raynham, HA More by this author
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Journal:
European journal of human genetics : EJHG
Volume:
9
Issue:
3
Pages:
217-225
Publication date:
2001-03-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:e7135c80-ee2c-4ec8-9632-c8f466f2b48f
Source identifiers:
246336
Local pid:
pubs:246336

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