المؤلفون: Musangile, Fidele Y., Matsuzaki, Ibu, Iwamoto, Ryuta, Sagan, Kanako, Nishikawa, Mizuki, Mikasa, Yurina, Takahashi, Yuichi, Higashine, Ryoma, Kojima, Fumiyoshi, Hara, Isao, Murata, Shin-ichi^{Aff1, IDs0042802403901w_cor11}

المصدر: Virchows Archiv: European Journal of Pathology. :1-9

المؤلفون: Shu, Zhou, Deng, Mengyue, Han, Tongxin, Mao, Huawei^{Aff1, Aff2, IDs1087502401783w_cor4}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 44(8)

المؤلفون: Lugo-Merly A, Molina Thurin LJ, Izquierdo-Encarnacion NJ, Casillas-Murphy SM, Oliver-Cruz A

المصدر: International Medical Case Reports Journal, Vol Volume 15, Pp 693-698 (2022)

مصطلحات موضوعية: stargardt disease, intronic mutation, abca4 gene, macular dystrophy, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.dovepress.com/stargardt-disease-due-to-an-intronic-mutation-in-the-abca4-a-case-repo-peer-reviewed-fulltext-article-IMCRJ; https://doaj.org/toc/1179-142X

URL الوصول: https://doaj.org/article/0f39f3280b854c48b2ea6703e9954081

المؤلفون: Xuantong Dai, Xue Zong, Xiaoxia Pan, Wei Lu, Geng-Ru Jiang, Fujun Lin

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Fabry disease, Renal variant, Podocyte, GLA gene, Deep intronic mutation, α-Galactosidase A, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c272c5c683c74a5fbf594c75b1e12fab

المؤلفون: Shan Liu, Kunlin Pei, Lu Chen, Jing Wu, Qiuling Chen, Jinyan Zhang, Hui Zhang, Chengyi Wang

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: de novo mutation, diamond-blackfan anemia, GATA1, intronic mutation, inherited, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1068923/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/aa181129b7c74e3f8fb32dec6ca391ae

المؤلفون: Dai, Xuantong, Zong, Xue, Pan, Xiaoxia, Lu, Wei, Jiang, Geng-Ru^{Aff1, Aff3}, Lin, Fujun^{Aff1, Aff3, IDs13023022023778_cor6}

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: Akie Kobayashi, Ryusei Ohtaka, Tsutomu Toki, Junichi Hara, Hideki Muramatsu, Rika Kanezaki, Yuka Takahashi, Tomohiko Sato, Takuya Kamio, Ko Kudo, Shinya Sasaki, Taro Yoshida, Taiju Utsugisawa, Hitoshi Kanno, Kenichi Yoshida, Yasuhito Nannya, Yoshiyuki Takahashi, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Kiminori Terui, Etsuro Ito

المصدر: eJHaem, Vol 3, Iss 1, Pp 163-167 (2022)

مصطلحات موضوعية: Diamond‐Blackfan anaemia (DBA), dyserythropoietic anaemia, GATA1, inherited bone marrow failure syndrome (IBMFS), intronic mutation, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2688-6146

URL الوصول: https://doaj.org/article/ab23682fb6af434fa7f986a01af0fcf7

المؤلفون: M Herman Chui, Ciyu Yang, Nikita Mehta, Vikas Rai, Ahmet Zehir, Amir Momeni Boroujeni, Marc Ladanyi, Diana Mandelker

المصدر: The Journal of Pathology: Clinical Research, Vol 8, Iss 1, Pp 14-18 (2022)

مصطلحات موضوعية: p53, TP53, intronic mutation, pathogenic variant, cancer, Pathology, RB1-214

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-4538

URL الوصول: https://doaj.org/article/b83220cb08b643ebbfb30e9d28a040ec

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المؤلفون: Qiufang Guo, Ping Zhang, Wenjing Ying, Yaqiong Wang, Jitao Zhu, Gang Li, Huijun Wang, Xiaochuan Wang, Caixia Lei, Wenhao Zhou, Jinqiao Sun, Bingbing Wu

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)

مصطلحات موضوعية: DKC1, intron retention, intronic mutation, minigene splicing assay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/47d02e1634474fdf829188857c647f16