Journal article icon

Journal article

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...

Expand abstract

Actions


Access Document


Publisher copy:
10.1126/science.1234864

Authors


Mahlaoui, N More by this author
Expand authors...
Journal:
Science
Volume:
340
Issue:
6135
Pages:
976-978
Publication date:
2013
DOI:
EISSN:
1095-9203
ISSN:
0036-8075
URN:
uuid:85718112-558b-4e37-ad30-07cdae873f14
Source identifiers:
406196
Local pid:
pubs:406196
Language:
English

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP