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Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

Abstract:

Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients and over one-third of the kindreds studied. The clinical penetrance in these kindreds is complete. Expression studies indicated that the mu...

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Publication status:
Published

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Publisher copy:
10.1126/science.1234864

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Journal:
Science (New York, N.Y.)
Volume:
340
Issue:
6135
Pages:
976-978
Publication date:
2013-05-05
DOI:
EISSN:
1095-9203
ISSN:
0036-8075
URN:
uuid:855b93d9-088f-433c-a048-1c3ea226c978
Source identifiers:
395962
Local pid:
pubs:395962

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