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Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy

Autor: Lei Zhang, Yanqiu Hu, Jingjing Lu, Peiwei Zhao, Xiankai Zhang, Li Tan, Jun Li, Cuiping Xiao, Linkong Zeng, Xuelian He

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Uniparental disomy (UPD) is a rare genetic event caused by errors during gametogenesis and fertilization leading to two copies of a chromosome or chromosomal region inherited from one parent. MixUPD is one type of UPD that contains isodisomic and het

Externí odkaz: https://doaj.org/article/0b826dc9a6a740369c7406c54be25cd3

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Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.

Autor: Chegini M; Department of Genetics, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.; Applied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran., Eslami M; Department of Genetics, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.; Applied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran., Motavaf M; Functional Neurosurgery Research Center, Shohada Tajrish Neurosurgical Comprehensive Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Memarsadeghi O; Applied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran., Hoseini A; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Torab E; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Hoseininasab F; Department of Reproductive Genetics, Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran., Amiri H; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Ramandi S; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Mostofinezhad N; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Keivani F; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Ghaffari SR; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran. saeed@ghaffari.org.; Department of Reproductive Genetics, Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran. saeed@ghaffari.org.; Department of Genomics, Gene Clinic, Tehran, Iran. saeed@ghaffari.org., Rafati M; Department of Genomics, Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran. maryam.rafati@nih.gov.; Department of Reproductive Genetics, Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran. maryam.rafati@nih.gov.

Publikováno v: Archives of dermatological research [Arch Dermatol Res] 2023 Dec 07; Vol. 316 (1), pp. 24. Date of Electronic Publication: 2023 Dec 07.