{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,4]],"date-time":"2025-06-04T00:10:06Z","timestamp":1748995806371,"version":"3.41.0"},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,7,4]],"date-time":"2016-07-04T00:00:00Z","timestamp":1467590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81201222","81272990"],"award-info":[{"award-number":["81201222","81272990"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis type 1 (<jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1) is a hereditary disease with variable clinical manifestations. This study was performed in a Chinese three\u2010generation family containing two members with<jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1. Two novel mutations, c.853_854ins<jats:styled-content style=\"fixed-case\">TC<\/jats:styled-content>and c.1975_1976delins<jats:styled-content style=\"fixed-case\">TA<\/jats:styled-content>, were identified in the same allele in both patients by direct sequencing. By reverse transcription polymerase chain reaction, we found that the<jats:italic><jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1<\/jats:italic>transcript contained the first mutation instead of the second mutation, suggesting a pathological role of c.853_854ins<jats:styled-content style=\"fixed-case\">TC<\/jats:styled-content>mutation. Case reports of patients with two<jats:italic><jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1<\/jats:italic>mutations in the same allele have not been reported. Our findings expand the known spectrum of<jats:italic><jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1<\/jats:italic>mutations and the ongoing recognition of different mutations may give insight into the mysterious<jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1 pathogenesis.<\/jats:p>","DOI":"10.1111\/1346-8138.13498","type":"journal-article","created":{"date-parts":[[2016,7,4]],"date-time":"2016-07-04T07:53:52Z","timestamp":1467618832000},"page":"1332-1335","source":"Crossref","is-referenced-by-count":2,"title":["Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion\u2013deletion mutation"],"prefix":"10.1111","volume":"43","author":[{"given":"Lude","family":"Zhu","sequence":"first","affiliation":[{"name":"Institute of Photomedicine Shanghai Skin Disease Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Shi","sequence":"additional","affiliation":[{"name":"Institute of Photomedicine Shanghai Skin Disease Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Ruijin Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingye","family":"Bi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nanjing Medical University Affiliated Wuxi People's Hospital Wuxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Pu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nanjing Medical University Affiliated Wuxi People's Hospital Wuxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linglin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute of Photomedicine Shanghai Skin Disease Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunfeng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute of Photomedicine Shanghai Skin Disease Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiuli","family":"Wang","sequence":"additional","affiliation":[{"name":"Institute of Photomedicine Shanghai Skin Disease Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guolong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute of Photomedicine Shanghai Skin Disease Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,7,4]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3204"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1556-4029.2007.00512.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2006.01.007"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20246"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1997.03550010065042"},{"key":"e_1_2_6_8_1","first-page":"1736","article-title":"Niermeijer MF [From gene to disease; 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