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Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene
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| Published in: | Human mutation 1998, Vol.Suppl 1, p.S85-S87 |
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| Main Authors: | , , , , , , , , , , , |
| Format: | Article |
| Language: | English |
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| container_end_page | S87 |
| container_issue | |
| container_start_page | S85 |
| container_title | Human mutation |
| container_volume | Suppl 1 |
| creator | Verhoef, S Vrtel, R Bakker, L Stolte-Dijkstra, I Nellist, M Begeer, J H Zaremba, J Jozwiak, S Tempelaars, A M Lindhout, D Halley, D J van den Ouweland, A M |
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| format | article |
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Vrtel, R ; Bakker, L ; Stolte-Dijkstra, I ; Nellist, M ; Begeer, J H ; Zaremba, J ; Jozwiak, S ; Tempelaars, A M ; Lindhout, D ; Halley, D J ; van den Ouweland, A M</creator><creatorcontrib>Verhoef, S ; Vrtel, R ; Bakker, L ; Stolte-Dijkstra, I ; Nellist, M ; Begeer, J H ; Zaremba, J ; Jozwiak, S ; Tempelaars, A M ; Lindhout, D ; Halley, D J ; van den Ouweland, A M</creatorcontrib><identifier>ISSN: 1059-7794</identifier><identifier>PMID: 9452050</identifier><language>eng</language><publisher>United States</publisher><subject>Adolescent ; Adult ; Base Sequence ; DNA - chemistry ; DNA - genetics ; DNA Mutational Analysis ; Family Health ; Female ; GTPase-Activating Proteins ; Humans ; Male ; Mutation ; Pedigree ; Polymorphism, Single-Stranded Conformational ; Protein Structure, Tertiary ; Proteins - genetics ; Repressor Proteins - chemistry ; Repressor Proteins - genetics ; Sequence Deletion ; Tuberous Sclerosis - genetics ; Tumor Suppressor Proteins</subject><ispartof>Human mutation, 1998, Vol.Suppl 1, p.S85-S87</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,4010,36990</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9452050$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Verhoef, S</creatorcontrib><creatorcontrib>Vrtel, R</creatorcontrib><creatorcontrib>Bakker, L</creatorcontrib><creatorcontrib>Stolte-Dijkstra, I</creatorcontrib><creatorcontrib>Nellist, M</creatorcontrib><creatorcontrib>Begeer, J H</creatorcontrib><creatorcontrib>Zaremba, J</creatorcontrib><creatorcontrib>Jozwiak, S</creatorcontrib><creatorcontrib>Tempelaars, A M</creatorcontrib><creatorcontrib>Lindhout, D</creatorcontrib><creatorcontrib>Halley, D J</creatorcontrib><creatorcontrib>van den Ouweland, A M</creatorcontrib><title>Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene</title><title>Human mutation</title><addtitle>Hum Mutat</addtitle><subject>Adolescent</subject><subject>Adult</subject><subject>Base Sequence</subject><subject>DNA - chemistry</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Family Health</subject><subject>Female</subject><subject>GTPase-Activating Proteins</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Protein Structure, Tertiary</subject><subject>Proteins - genetics</subject><subject>Repressor Proteins - chemistry</subject><subject>Repressor Proteins - genetics</subject><subject>Sequence Deletion</subject><subject>Tuberous Sclerosis - genetics</subject><subject>Tumor Suppressor Proteins</subject><issn>1059-7794</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><recordid>eNotUM1KxDAYzEFZ19VHEHLyVkiTfE16XBZdhQVFe_JS0uSLVvpnkh58e4vb0wwzwzDMBdnmDMpMqVJekesYvxljGkBsyKaUwBmwLfl4QzuHgEOi_ZxMaseBSq25w66qaDvQ9IX0uH_NAnYmoaNu7M0ij_7fSXODYZwjjbZbSGwjrd4PnH7igDfk0psu4u2KO1I9PlSHp-z0cnw-7E_ZBIJlonCeN8qCbHSphQELDYBEz43PFRjllVlsZxxHWQByoZQuPFhvHPMcxY7cn2unMP7MGFPdt9Fi15kBl2W1KguVCwVL8G4Nzk2Prp5C25vwW69fiD_hKVm1</recordid><startdate>1998</startdate><enddate>1998</enddate><creator>Verhoef, S</creator><creator>Vrtel, R</creator><creator>Bakker, L</creator><creator>Stolte-Dijkstra, I</creator><creator>Nellist, M</creator><creator>Begeer, J H</creator><creator>Zaremba, J</creator><creator>Jozwiak, S</creator><creator>Tempelaars, A M</creator><creator>Lindhout, D</creator><creator>Halley, D J</creator><creator>van den Ouweland, A M</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>1998</creationdate><title>Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene</title><author>Verhoef, S ; 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| identifier | ISSN: 1059-7794 |
| ispartof | Human mutation, 1998, Vol.Suppl 1, p.S85-S87 |
| issn | 1059-7794 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_79671375 |
| source | Publicly Available Content Database |
| subjects | Adolescent Adult Base Sequence DNA - chemistry DNA - genetics DNA Mutational Analysis Family Health Female GTPase-Activating Proteins Humans Male Mutation Pedigree Polymorphism, Single-Stranded Conformational Protein Structure, Tertiary Proteins - genetics Repressor Proteins - chemistry Repressor Proteins - genetics Sequence Deletion Tuberous Sclerosis - genetics Tumor Suppressor Proteins |
| title | Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene |
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