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Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family |
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| Authors: | Neerja Gupta Paola Bianchi Elisa Fermo Madhulika Kabra Prashant Warang Prabhakar Kedar Nomeeta Gupta Roshan Colah |
| Institution: | 1. Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India;2. Department of Haematology, Fondazione IRCCS Ospedale Maggiore, Mangiagalli e Regina Elena, Via Francesco Sforza 35, 20122 Milano, Italy;3. Institute of Immunohematology (ICMR), Mumbai 400012, India;4. Department of Pediatrics, Batra Hospital and Research Centre, New Delhi, India |
| Abstract: | |
| Keywords: | prenatal diagnosis pyruvate kinase deficiency molecular genetics |