50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
April 2023 in “Journal of Investigative Dermatology” Aging changes skin cells, leading to different DNA methylation and gene activity, affecting cell metabolism and aging signs.
2 citations
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January 2017 in “Journal of Biotechnology Research Center” Hair dyes affect DNA analysis results, with the prepFiler kit working best for hair with follicles.
19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.