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FMR1CGG allele size and prevalence ascertained through newborn screening in the United States

✍ Scribed by Flora Tassone, Ka Pou Iong, Tzu-Han Tong, Joyce Lo, Louise W Gane…

Book ID
120705375
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
282 KB
Volume
4
Category
Article
ISSN
1756-994X

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Biotinidase deficiency is inherited as an autosomal recessive trait that, unless treated with pharmacologic doses of biotin, can result in neurologic and cutaneous symptoms. We have identified two new mutations in exon D of the biotinidase gene of children with profound biotinidase deficiency ascert