A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.

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Title: A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.
Authors: Mudau MM; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. maria.mudau@nhls.ac.za., Seymour H; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Nevondwe P; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Kerr R; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Spencer C; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Feben C; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Lombard Z; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Honey E; Department of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Sciences, University of Pretoria, Pretoria, South Africa., Krause A; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Carstens N; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Genomics Platform, South African Medical Research Council, Cape Town, South Africa.
Source: Journal of community genetics [J Community Genet] 2024 Feb; Vol. 15 (1), pp. 39-48. Date of Electronic Publication: 2023 Oct 10.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101551501 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1868-310X (Print) Linking ISSN: 1868310X NLM ISO Abbreviation: J Community Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1868-310X
DOI:10.1007/s12687-023-00674-8