Screening of three Mediterranean phenylketonuria mutations in Tunisian families
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| Veröffentlicht in: | Journal of genetics 2012-04, Vol.91 (1), p.91-94 |
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| container_end_page | 94 |
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| container_title | Journal of genetics |
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| creator | KHEMIR, SAMEH SIALA, HAJER TAIEB, SAMEH HADJ CHERIF, WAFA AZZOUZ, HATEM KÉFI, RYM ABDELHAK, SONIA KHOUJA, NAZIHA TEBIB, NEJI MASSAOUD, TAIEB DRIDI, MARIE FRANÇOISE BEN KAABACHI, NAZIHA |
| description | research note |
| doi_str_mv | 10.1007/s12041-012-0140-z |
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genetics</subject><subject>Pediatrics</subject><subject>Phenylketonuria</subject><subject>Phenylketonurias - genetics</subject><subject>Plant Genetics and Genomics</subject><subject>Research Note</subject><subject>Tunisia</subject><issn>0022-1333</issn><issn>0973-7731</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp1kctO3TAQhi1Exa08ABsUiU1ZpJ2xkzhZItQWpFOxKF1bjjPmmCbOwU6Q4OnxUQBVSF34MvY3v2f8M3aC8BUB5LeIHArMAXkaBeTPO-wAGilyKQXupj1wnqMQYp8dxni_DSXwPbbPeVlUtYADdvPbBCLv_F022mxapyD7RZ2bKATtSftssyb_1P-lafRzcDob5klPbvQxcz67nb2LLlFWD653FD-zT1b3kY5f1yP258f328urfHXz8_ryYpWbAqopzbXuqkIWNUoC0xnbtB3UhpvG2ooIiSw2pYGWSBvZ1RU0tQGJrW2p5locsfNFd617tQlu0OFJjdqpq4uV2p4BirIuC_GIif2ysJswPswUJzW4aKjvU4PjHBUCQiVk0VQJPfuA3o9z8KmTRHEo0w8iTxQulAljjIHsewUIauuMWpxJRXC1dUY9p5zTV-W5Hah7z3izIgF8AWK68ncU_n36f6ovTGaZig</recordid><startdate>20120401</startdate><enddate>20120401</enddate><creator>KHEMIR, SAMEH</creator><creator>SIALA, HAJER</creator><creator>TAIEB, SAMEH HADJ</creator><creator>CHERIF, WAFA</creator><creator>AZZOUZ, HATEM</creator><creator>KÉFI, RYM</creator><creator>ABDELHAK, SONIA</creator><creator>KHOUJA, NAZIHA</creator><creator>TEBIB, NEJI</creator><creator>MASSAOUD, TAIEB</creator><creator>DRIDI, MARIE FRANÇOISE BEN</creator><creator>KAABACHI, NAZIHA</creator><general>Springer-Verlag</general><general>Springer Nature B.V</general><general>Indian Academy of Sciences</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7SS</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope><scope>1XC</scope></search><sort><creationdate>20120401</creationdate><title>Screening of three Mediterranean phenylketonuria mutations in Tunisian families</title><author>KHEMIR, SAMEH ; SIALA, HAJER ; TAIEB, SAMEH HADJ ; CHERIF, WAFA ; AZZOUZ, HATEM ; KÉFI, RYM ; ABDELHAK, SONIA ; KHOUJA, NAZIHA ; TEBIB, NEJI ; MASSAOUD, TAIEB ; DRIDI, MARIE FRANÇOISE BEN ; KAABACHI, NAZIHA</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c406t-c48ad6474817e0cdcf9bd08c2c9ff6ee1eef195c0beeac7d86098c071bfbe82a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adolescent</topic><topic>Alleles</topic><topic>Animal Genetics and Genomics</topic><topic>Base Sequence</topic><topic>Biochemistry</topic><topic>Biomedical and Life Sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>DNA Mutational Analysis</topic><topic>Enzymes</topic><topic>Evolutionary Biology</topic><topic>Family</topic><topic>Genetic Association Studies</topic><topic>Genetic Testing</topic><topic>Geography</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Intellectual disabilities</topic><topic>Life Sciences</topic><topic>Medical laboratories</topic><topic>Mediterranean Region</topic><topic>Metabolic disorders</topic><topic>Microbial Genetics and Genomics</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Mutation - 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| fulltext | fulltext |
| identifier | ISSN: 0022-1333 |
| ispartof | Journal of genetics, 2012-04, Vol.91 (1), p.91-94 |
| issn | 0022-1333 0973-7731 |
| language | eng |
| recordid | cdi_hal_primary_oai_HAL_hal_01358543v1 |
| source | MEDLINE; SpringerNature Journals; Indian Academy of Sciences; EZB-FREE-00999 freely available EZB journals |
| subjects | Adolescent Alleles Animal Genetics and Genomics Base Sequence Biochemistry Biomedical and Life Sciences Child Child, Preschool DNA Mutational Analysis Enzymes Evolutionary Biology Family Genetic Association Studies Genetic Testing Geography Humans Infant Infant, Newborn Intellectual disabilities Life Sciences Medical laboratories Mediterranean Region Metabolic disorders Microbial Genetics and Genomics Molecular Sequence Data Mutation Mutation - genetics Pediatrics Phenylketonuria Phenylketonurias - genetics Plant Genetics and Genomics Research Note Tunisia |
| title | Screening of three Mediterranean phenylketonuria mutations in Tunisian families |
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