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Karaca et al., 2015 - Google Patents

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

Karaca et al., 2015

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Document ID
16670492587751163146
Author
Karaca M
Özgül R
Ãœnal Ã
Yücel-Yılmaz D
Kılıç M
HiÅŸmi B
Tokatlı A
CoÅŸkun T
Dursun A
Sivri H
Publication year
Publication venue
European journal of pediatrics

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Snippet

The incidence of biotinidase deficiency in Turkey is currently one of the highest in the world. To expand upon the information about the biotinidase gene (BTD) variations in Turkish patients, we conducted a mutation screening in a large series (n= 210) of probands with …
Continue reading at acikerisim.aksaray.edu.tr (PDF) (other versions)

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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Hybridisation probes
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
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    • G01N2333/916—Hydrolases (3) acting on ester bonds (3.1), e.g. phosphatases (3.1.3), phospholipases C or phospholipases D (3.1.4)

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