期刊
MOLECULAR GENETICS AND METABOLISM
卷 120, 期 3, 页码 288-294出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2016.12.006
关键词
Combined alpha-delta platelet storage pool deficiency; alpha delta-SPD; GFI1B
资金
- National Human Genome Research Institute, National Institutes of Health
Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe two patients from unrelated families with combined alpha-delta storage pool deficiency due to mutations in GFI1B, a zinc finger protein known to act as a transcriptional repressor of various genes. We demonstrate that this disease is associated with either a heterozygous mutation (de novo or familial) abrogating the binding of the zinc fingers with the promoter of its target genes, or by hypomorphic biallelic mutations in GFT1B leading to autosomal recessive inheritance. Published by Elsevier Inc.
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