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2000 | 41 | 4 | 293-302
Article title

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gen

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EN
Abstracts
EN
We present twenty-nine PHEX gene mutations extending our previous work, giving it to a total of 37 different mutations identified in Polish patients with familial or sporadic X-linked hypophosphatemia. Deletions, insertions and nucleotide substitutions leading to frameshift (27%), stop codon (29%), splice site (24%), and missense mutations (20%) were found. The mutations are distributed along the gene, exons 3, 4, 11, 12, 14, 15, 17, 20 and 22 are regions with the most frequent mutation events. Four mutations, P534L, G579R, R549X and IVS15+1nt, recurred in three, four, two and three unrelated patients, respectively. They have also been detected in affected persons from other countries. Twenty-eight mutations are specific for Polish population and almost all of them are unique. Most of the identified mutations are expected to result in major changes in protein structure and/or function.
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Year
Volume
41
Issue
4
Pages
293-302
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References
Document Type
ARTICLE
Publication order reference
E. Popowska, Department of Medical Genetics, Children?s Memorial Health Institute, Al. Dzieci Polskich 20, 04-736 Warszawa, Poland, e-mail: epopowska@czd.waw.pl
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YADDA identifier
bwmeta1.element.element-from-psjc-0c0f9305-f875-315c-8870-572de2708f6c
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