In:
Blood, American Society of Hematology, Vol. 124, No. 16 ( 2014-10-16), p. 2554-2563
Abstract:
We identify a new type of autosomal recessive macrothrombocytopenia associated with a mutation in PRKACG, coding the PKA catalytic subunit. The homozygous PRKACG mutation leads to a deep defect in proplatelet formation that was restored by the overexpression of wild-type PRKACG.
Type of Medium:
Online Resource
ISSN:
0006-4971
,
1528-0020
DOI:
10.1182/blood-2014-01-551820
Language:
English
Publisher:
American Society of Hematology
Publication Date:
2014
detail.hit.zdb_id:
1468538-3
detail.hit.zdb_id:
80069-7
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