A novel ABCA12 mutation underlying a case of Harlequin ichthyosis
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| Veröffentlicht in: | British journal of dermatology (1951) 2006-07, Vol.155 (1), p.204-206 |
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| container_end_page | 206 |
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| container_issue | 1 |
| container_start_page | 204 |
| container_title | British journal of dermatology (1951) |
| container_volume | 155 |
| creator | Rajpar, S.F. Cullup, T. Kelsell, D.P. Moss, C. |
| description | |
| doi_str_mv | 10.1111/j.1365-2133.2006.07291.x |
| format | Article |
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Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Ichthyosis, Lamellar - genetics</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical sciences</subject><subject>new mutation</subject><subject>Phenotype</subject><subject>Sequence Analysis, DNA</subject><issn>0007-0963</issn><issn>1365-2133</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkU1P3DAQhq0KVBboX6h8gVvC2E5s58Ah7AJLheBC1aPl-KN4m00gTtrdf0_CbmEuM9I874xmXoQwgZSMcbFKCeN5QgljKQXgKQhakHTzBc0-GgdoBgAigYKzI3Qc4wqAMMjhKzoiXBRUCDFDZYmb9q-rcXk1LwnF66HXfWgbPDTWdfU2NL-xxkZHh1uPl7qr3esQGhzMc_-8bWOIp-jQ6zq6b_t8gn7eXD_Nl8n94-3dvLxPDJOcJNwUxjjDgIF1kkpvvWFZZnnhMyoLU_lccCm8roT1zHFGoABbCF3ZypqMsRN0vpv70rWvg4u9WodoXF3rxrVDVFzmXNJ38PseHKq1s-qlC2vdbdX_o0fgbA_oaHTtO92YED85ITNJBYzc5Y77F2q3_eyDmkxQKzX9Wk2_VpMJ6t0EtVFXPxZTNeqTnT7E3m0-9Lr7o7hgIle_Hm7HbVk2Xzwt1JK9AeZwh98</recordid><startdate>200607</startdate><enddate>200607</enddate><creator>Rajpar, S.F.</creator><creator>Cullup, T.</creator><creator>Kelsell, D.P.</creator><creator>Moss, C.</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200607</creationdate><title>A novel ABCA12 mutation underlying a case of Harlequin ichthyosis</title><author>Rajpar, S.F. ; Cullup, T. ; Kelsell, D.P. ; Moss, C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3861-6c9ccec3030de828fdfc344d69f4289cbf57687fab7df3e631090d97abdbdc433</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>ABCA12</topic><topic>ATP-Binding Cassette Transporters - genetics</topic><topic>Biological and medical sciences</topic><topic>Codon, Nonsense</topic><topic>Codon, Terminator</topic><topic>Dermatology</topic><topic>Dyskeratosis</topic><topic>Genotype</topic><topic>harlequin ichthyosis</topic><topic>Hereditary diseases of the skin. 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| ispartof | British journal of dermatology (1951), 2006-07, Vol.155 (1), p.204-206 |
| issn | 0007-0963 1365-2133 |
| language | eng |
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| source | Wiley-Blackwell Journals; MEDLINE; Oxford Journals - Connect here FIRST to enable access |
| subjects | ABCA12 ATP-Binding Cassette Transporters - genetics Biological and medical sciences Codon, Nonsense Codon, Terminator Dermatology Dyskeratosis Genotype harlequin ichthyosis Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue Homozygote Humans Ichthyosis, Lamellar - genetics Infant, Newborn Male Medical sciences new mutation Phenotype Sequence Analysis, DNA |
| title | A novel ABCA12 mutation underlying a case of Harlequin ichthyosis |
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