Zobrazeno 1 - 10
of 328
pro vyhledávání: '"Two-generation pedigree"'
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
Abstract Background Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significa
Externí odkaz:
https://doaj.org/article/6a1c02a1f07841aba3a2775fafe038a7
Autor:
Song, Yinsen1 (AUTHOR), Dong, Zhengping2 (AUTHOR), Luo, Shuying3 (AUTHOR), Yang, Junmei1 (AUTHOR), Lu, Yuebing3 (AUTHOR), Gao, Bo4 (AUTHOR) fromzero1121@hotmail.com, Fan, Tianli5 (AUTHOR) tlfan2012@163.com
Publikováno v:
BMC Medical Genetics. 1/6/2020, Vol. 21 Issue 1, p1-5. 5p.
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
BMC Medical Genetics
BMC Medical Genetics
Background Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homolo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a65e8fcef83c2f7fb0128bf3c99162a5
https://doaj.org/article/6a1c02a1f07841aba3a2775fafe038a7
https://doaj.org/article/6a1c02a1f07841aba3a2775fafe038a7
Publikováno v:
Genes; Aug2024, Vol. 15 Issue 8, p1020, 12p
Autor:
Huang, Xiu-Feng1 (AUTHOR), Sun, Li2 (AUTHOR), Zhang, Chunwu3 (AUTHOR), Zhou, Zhenni4 (AUTHOR), Chen, Hui5 (AUTHOR), Zhang, Linhua6 (AUTHOR), Brown, Matthew A.7,8 (AUTHOR), Xia, Xiaoru2 (AUTHOR)
Publikováno v:
BioMed Research International. 1/31/2020, p1-6. 6p.
Autor:
Zhou, Linghua1 (AUTHOR), Chen, Zhiqiang1,2 (AUTHOR), Lundqvist, Sven-Olof2,3,4 (AUTHOR), Olsson, Lars3,5 (AUTHOR), Grahn, Thomas1,3 (AUTHOR), Karlsson, Bo1,4 (AUTHOR), Wu, Harry X.1,2,3,5 (AUTHOR), García-Gil, María Rosario1,3 (AUTHOR) m.rosario.garcia@slu.se
Publikováno v:
Canadian Journal of Forest Research. 2019, Vol. 49 Issue 7, p810-818. 9p.
Autor:
Di Iorio, Enzo1,2 (AUTHOR), Adamo, Ginevra Giovanna3 (AUTHOR), Sorrentino, Ugo2,4 (AUTHOR), De Nadai, Katia3,5 (AUTHOR), Barbaro, Vanessa6 (AUTHOR), Mura, Marco3,7 (AUTHOR), Pellegrini, Marco3 (AUTHOR), Boaretto, Francesca2 (AUTHOR), Tavolato, Marco5 (AUTHOR), Suppiej, Agnese5,8 (AUTHOR), Nasini, Francesco9 (AUTHOR), Salviati, Leonardo2,4 (AUTHOR), Parmeggiani, Francesco3,5 (AUTHOR) francesco.parmeggiani@unife.it
Publikováno v:
Scientific Reports. 8/10/2024, Vol. 14 Issue 1, p1-9. 9p.
Autor:
Liu, Qi, Iqbal, Muhammad Faaras, Yaqub, Tahir, Firyal, Sehrish, Zhao, Yiqiang, Stoneking, Mark, Li, Mingkun
Publikováno v:
Human Mutation; Sep2022, Vol. 43 Issue 9, p1259-1267, 9p
Autor:
Dongling Liu1, Xijiang Hu2, Xiwen Jiang3, Bo Gao4, Cheng Wan5 cwan@pku.edu.cn, Changying Chen1 changying0000@126.com
Publikováno v:
BMC Medical Genetics. 11/21/2017, Vol. 18, p1-5. 5p.
Autor:
Hsin-Yuan Tsai1, Matika, Oswald1, Edwards, Stefan McKinnon1, Antolín-Sánchez, Roberto1, Hamilton, Alastair2, Guy, Derrick R.2, Tinch, Alan E.2, Gharbi, Karim3, Stear, Michael J.4, Taggart, John B.5, Bron, James E.5, Hickey, John M.1, Houston, Ross D.1 ross.houston@roslin.ed.ac.uk
Publikováno v:
G3: Genes | Genomes | Genetics. Apr2017, Vol. 7 Issue 4, p1378-1383. 7p.