Review
doi: 10.1038/ejhg.2015.246.
Epub 2015 Nov 18.
Clinical utility gene card for: Biotinidase deficiency-update 2015
Affiliations
- PMID: 26577040
- PMCID: PMC5070897
- DOI: 10.1038/ejhg.2015.246
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Review
Clinical utility gene card for: Biotinidase deficiency-update 2015
Eur J Hum Genet.
2016 Jul.
No abstract available
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References
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- Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B: Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. Nat Genet 1995; 11: 96–98. - PubMed
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- Wolf B: Biotinidase deficiency: ‘if you have to have an inherited metabolic disease, this is the one to have'. Genetics in medicine: official journal of the American College of Medical Genetics 2012; 14: 565–575. - PubMed
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- Li H, Spencer L, Nahhas F et al: Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. Molecular genetics and metabolism 2014; 112: 242–246. - PubMed
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