| Tartalom: |
http://dx.doi.org/10.1002/humu.9392 |
| Archívum: |
MTA Könyvtár |
| Gyűjtemény: |
Status = Published
Type = Article
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| Cím: |
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption
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| Létrehozó: |
Sander, Petra
Alfalah, Marwan
Keiser, Markus
Korponay-Szabó, Ilma Rita
Kovács, Judit B.
Leeb, Tosso
Naim, Hassan Y.
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| Kiadó: |
Wiley-Blackwell
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| Dátum: |
2005
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| Téma: |
RC Internal medicine / belgyógyászat
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| Tartalmi leírás: |
Disaccharide intolerance I or congenital sucrase-isomaltase deficiency (CSID) is a disorder leading to maldigestion of disaccharides, which is autosomal recessively inherited. Here we analyzed the sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency. Variants in the SI gene had previously been described in CSID patients, which cause amino acid exchanges that affect the transport, the processing, or the function of the SI protein. None of our patients had known mutations for CSID. Our analyses revealed 43 SI variants in total, 15 within exons and one at a splice site. Eight of the exonic mutations lead to amino acid exchanges, causing hypomorph or null alleles. One new variation affects a splice site, which is also predicted to result in a null allele. All potential pathological alterations were present on one allele only. In six out of the 11 patients the phenotype of CSID could be explained by compound heterozygosity.
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| Típus: |
Article
PeerReviewed
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| Formátum: |
application/pdf
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| Azonosító: |
Sander, Petra and Alfalah, Marwan and Keiser, Markus and Korponay-Szabó, Ilma Rita and Kovács, Judit B. and Leeb, Tosso and Naim, Hassan Y. (2005) Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. Human Mutation, 27 (1). p. 119. ISSN 1059-7794 (print), 1098-1004 (online)
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| Kapcsolat: |
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