The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Abstract
Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein...
Paper Details
Title
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Published Date
Feb 1, 1999
Journal
Volume
21
Issue
2
Pages
169 - 175
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