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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.
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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  Data: A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
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  Data: <searchLink fieldCode="AU" term="%22Goktas+S%22">Goktas S</searchLink>; Departments of Pediatrics, Division of Pediatric Allergy and Immunology.<br /><searchLink fieldCode="AU" term="%22Azizoglu+ZB%22">Azizoglu ZB</searchLink>; Medical Biology.<br /><searchLink fieldCode="AU" term="%22Petersheim+D%22">Petersheim D</searchLink>; Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Erdogan+M%22">Erdogan M</searchLink>; Pediatrics, Division of Pediatric Hematology-Oncology & Pediatric HSCT Unit, Faculty of Medicine, Erciyes University.<br /><searchLink fieldCode="AU" term="%22Eke+Gungor+H%22">Eke Gungor H</searchLink>; Pediatric Allergy and Immunology Clinic, Kayseri City Hospital, Health Science University.<br /><searchLink fieldCode="AU" term="%22Bisgin+A%22">Bisgin A</searchLink>; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM).; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.<br /><searchLink fieldCode="AU" term="%22Tuğ+Bozdoğan+S%22">Tuğ Bozdoğan S</searchLink>; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM).; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.<br /><searchLink fieldCode="AU" term="%22Eken+A%22">Eken A</searchLink>; Medical Biology.; Betül-Ziya Eren Genome and Stem Cell Center (GENKOK), Kayseri.<br /><searchLink fieldCode="AU" term="%22Unal+E%22">Unal E</searchLink>; Pediatrics, Division of Pediatric Hematology-Oncology & Pediatric HSCT Unit, Faculty of Medicine, Erciyes University.; Betül-Ziya Eren Genome and Stem Cell Center (GENKOK), Kayseri.<br /><searchLink fieldCode="AU" term="%22Klein+C%22">Klein C</searchLink>; Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Patiroglu+T%22">Patiroglu T</searchLink>; Departments of Pediatrics, Division of Pediatric Allergy and Immunology.; Pediatrics, Division of Pediatric Hematology-Oncology & Pediatric HSCT Unit, Faculty of Medicine, Erciyes University.
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  Data: <searchLink fieldCode="JN" term="%229505928%22">Journal of pediatric hematology/oncology</searchLink> [J Pediatr Hematol Oncol] 2022 Jan 01; Vol. 44 (1), pp. e62-e67.
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  Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Lippincott+Williams+%26+Wilkins%22">Lippincott Williams & Wilkins </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9505928 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1536-3678 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210774114%22">10774114 </searchLink><i>NLM ISO Abbreviation: </i>J Pediatr Hematol Oncol <i>Subsets: </i>MEDLINE
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        Value: 10.1097/MPH.0000000000002071
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        Text: English
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      – TitleFull: A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
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            – D: 01
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              Text: 2022 Jan 01
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