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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Disease and FECH[original query]
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
American journal of human genetics 2006 Jan 78 (1): 2-14.
Gouya Laurent, Martin-Schmitt Caroline, Robreau Anne-Marie, Austerlitz Frederic, Da Silva Vasco, Brun Patrick, Simonin Sylvie, Lyoumi Said, Grandchamp Bernard, Beaumont Carole, Puy Herve, Deybach Jean-Charl
A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
Folia biologica 2015 61 (6): 227-32.
Farrag M S, Ku?erová J, Šlachtová L, Šeda O, Šperl J, Martásek
Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans.
Human molecular genetics 2019 02 28 (4): 675-687.
Wang Heming, Cade Brian E, Sofer Tamar, Sands Scott A, Chen Han, Browning Sharon R, Stilp Adrienne M, Louie Tin L, Thornton Timothy A, Johnson W Craig, Below Jennifer E, Conomos Matthew P, Evans Daniel S, Gharib Sina A, Guo Xiuqing, Wood Alexis C, Mei Hao, Yaffe Kristine, Loredo Jose S, Ramos Alberto R, Barrett-Connor Elizabeth, Ancoli-Israel Sonia, Zee Phyllis C, Arens Raanan, Shah Neomi A, Taylor Kent D, Tranah Gregory J, Stone Katie L, Hanis Craig L, Wilson James G, Gottlieb Daniel J, Patel Sanjay R, Rice Ken, Post Wendy S, Rotter Jerome I, Sunyaev Shamil R, Cai Jianwen, Lin Xihong, Purcell Shaun M, Laurie Cathy C, Saxena Richa, Redline Susan, Zhu Xiaofe
Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism.
Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul .
Chiara Matteo, Primon Ilaria, Tarantini Letizia, Agnelli Luca, Brancaleoni Valentina, Granata Francesca, Bollati Valentina, Di Pierro Ele
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Genetics in medicine : official journal of the American College of Medical Genetics 2020 9 23 (1): 140-148.
Dickey Amy K, Quick Corbin, Ducamp Sarah, Zhu Zhaozhong, Feng Yen-Chen A, Naik Hetanshi, Balwani Manisha, Anderson Karl E, Lin Xihong, Phillips John E, Rebeiz Lina, Bonkovsky Herbert L, McGuire Brendan M, Wang Bruce, Chasman Daniel I, Smoller Jordan W, Fleming Mark D, Christiani David
The role of the genetic variant FECH rs11660001 in the occurrence of anti-tuberculosis drug-induced liver injury.
Journal of clinical pharmacy and therapeutics 2022 4 47 (8): 1276-1283.
Zhang Meiling, Zhu Jia, Wang Nannan, Liu Wenpei, Lu Lihuan, Pan Hongqiu, He Xiaomin, Yi Honggang, Tang Shaow
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