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.
Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness
- Journal Title
- Human Genetics
- Volume 1 / 1966 - Volume 136 / 2017
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- Online ISSN
- Springer Berlin Heidelberg
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