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Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes

Abstract:

The ribosome is an evolutionarily conserved organelle essential for cellular function. Ribosome construction requires assembly of approximately 80 different ribosomal proteins (RPs) and four different species of rRNA. As RPs co-assemble into one multi-subunit complex, mutation of the genes that encode RPs might be expected to give rise to phenocopies, in which the same phenotype is associated with loss-of-function of each individual gene. However, a more complex picture is emerging in which, ...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's Version

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Publisher copy:
10.1371/journal.pgen.1003094

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Publisher:
Public Library of Science Publisher's website
Journal:
PLoS Genetics Journal website
Publication date:
2013-01-31
Acceptance date:
2012-09-30
DOI:
EISSN:
1553-7404
ISSN:
1553-7390
URN:
uuid:8bfeb3f9-4e96-49e1-b52e-acc44a33d0cb
Source identifiers:
384768
Local pid:
pubs:384768

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