cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.

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Title: cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Authors: Kuptanon C; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Morimoto M; National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Nicoli ER; National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Stephen J; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Yarnell DS; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Dorward H; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Owen W; Children's Hospital of The King's Daughters, Norfolk, VA, United States., Parikh S; Department of Pediatrics, School of Medicine, Emory University, Atlanta, GA, United States., Ozbek NY; Division of Pediatric Hematology and Oncology, University of Yeni Yuzyil, Gaziosmanpasa Hospital, Istanbul, Türkiye., Malbora B; Department of Pediatric Hematology/Oncology, Ankara City Hospital, The University of Health Sciences, Ankara, Türkiye., Ciccone C; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Gunay-Aygun M; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Gahl WA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.; National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Introne WJ; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Malicdan MCV; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.; National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
Source: Frontiers in genetics [Front Genet] 2023 Mar 08; Vol. 14, pp. 1072784. Date of Electronic Publication: 2023 Mar 08 (Print Publication: 2023).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1664-8021
DOI:10.3389/fgene.2023.1072784