Human Genetics presents original and timely articles on all aspects of human genetics. Coverage includes gene structure and organization; gene expression; mutation detection and analysis; linkage analysis and genetic mapping; physical mapping; cytogenetics and genomic imaging; genome structure and organization; disease association studies; molecular diagnostics; genetic epidemiology; evolutionary genetics; developmental genetics; genotype-phenotype relationships; molecular genetics of tumorigenesis; genetics of complex diseases and epistatic interactions; ethical, legal and social issues and bioinformatics.
Letter to the Editor
Author response to “a response to ‘personalised medicine and population health: breast and ovarian cancer’”
Steven A. Narod (February 2019)
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
- Journal Title
- Human Genetics
- Volume 1 / 1966 - Volume 138 / 2019
- Print ISSN
- Online ISSN
- Springer Berlin Heidelberg
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