Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency
| Autor: | Shruti Bagla, Kanta Bhambhani, Manisha Gadgeel, Steven Buck, Jian-Ping Jin, Yaddanapudi Ravindranath |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Haematologica, Vol 104, Iss 9 (2019) |
| Druh dokumentu: | article |
| ISSN: | 0390-6078 1592-8721 |
| DOI: | 10.3324/haematol.2018.214692 |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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