A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
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| Title: | A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia. |
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| Authors: | Goktas S; Departments of Pediatrics, Division of Pediatric Allergy and Immunology., Azizoglu ZB; Medical Biology., Petersheim D; Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Erdogan M; Pediatrics, Division of Pediatric Hematology-Oncology & Pediatric HSCT Unit, Faculty of Medicine, Erciyes University., Eke Gungor H; Pediatric Allergy and Immunology Clinic, Kayseri City Hospital, Health Science University., Bisgin A; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM).; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey., Tuğ Bozdoğan S; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM).; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey., Eken A; Medical Biology.; Betül-Ziya Eren Genome and Stem Cell Center (GENKOK), Kayseri., Unal E; Pediatrics, Division of Pediatric Hematology-Oncology & Pediatric HSCT Unit, Faculty of Medicine, Erciyes University.; Betül-Ziya Eren Genome and Stem Cell Center (GENKOK), Kayseri., Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Patiroglu T; Departments of Pediatrics, Division of Pediatric Allergy and Immunology.; Pediatrics, Division of Pediatric Hematology-Oncology & Pediatric HSCT Unit, Faculty of Medicine, Erciyes University. |
| Source: | Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2022 Jan 01; Vol. 44 (1), pp. e62-e67. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9505928 Publication Model: Print Cited Medium: Internet ISSN: 1536-3678 (Electronic) Linking ISSN: 10774114 NLM ISO Abbreviation: J Pediatr Hematol Oncol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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