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001-es BibID:	BIBFORM044283
Első szerző:	Sander, Petra
Cím:	Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption / Sander Petra, Alfalah Marwan, Keiser Markus, Korponay-Szabo Ilma, B. Kovács Judit, Leeb Tosso, Naim Hassan Y.
Dátum:	2006
ISSN:	1059-7794 1098-1004
Megjegyzések:	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.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Human Mutation. - 27 : 1 (2006), p. 119. -
További szerzők:	Alfalah, Marwan Keiser, Markus Korponay-Szabó Ilma (1959-) (gyermekgyógyász) B. Kovács Judit Leeb, Tosso Naim, Hassan Y.
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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