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Biochemistry, Molecular Biology and Molecular Genetics of Galactosemia (PDFDrive) PDF

23 Pages·2021·English
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by ['Eng Cirro']| 2021| 23 pages| English

About Biochemistry, Molecular Biology and Molecular Genetics of Galactosemia (PDFDrive)

1. The document discusses galactosemia, an autosomal recessive disorder caused by a defect in galactose metabolism. There are three main types depending on which enzyme - galactokinase, galactose-1-phosphate uridyltransferase, or uridine diphosphate galactose-4-epimerase - is deficient. 2. The paper reports on characterization of mutations in the GALT and GALK genes in Indian patients with galactosemia. In 55 unrelated patients, 16 distinct GALT mutations were found, including 10 novel mutations. Screening of 200 infants identified 5 mutations in the GALK gene, of which 4 were novel. 3. Im

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Author:['Eng Cirro']
Publication Year:2021
Pages:23
Language:English
Format:PDF
Price:FREE
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