Publications:

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Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.

Lipids In Health And Disease

Zhang, Jun J; Chen, Qiu-Li QL; Guo, Song S; Li, Yan-Hong YH; Li, Chuan C; Zheng, Ru-Jiang RJ; Luo, Xue-Qun XQ; Ma, Hua-Mei HM

Publication Date: 2022-10-13

Variant appearance in text: ABCG5: 751C>T

PubMed Link: 36229885

Variant Present in the following documents:

• Main text
• 12944_2022_Article_1710.pdf

View BVdb publication page

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Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.

Internal Medicine (Tokyo, Japan)

Tada, Hayato H; Okada, Hirofumi H; Nomura, Akihiro A; Takamura, Masayuki M; Kawashiri, Masa-Aki MA

Publication Date: 2022-06-14

Variant appearance in text: ABCG5: 751C>T; Gln251Ter

PubMed Link: 35705271

Variant Present in the following documents:

• 1349-7235-62-0251.pdf

View BVdb publication page

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Features of chinese patients with sitosterolemia.

Lipids In Health And Disease

Zhou, Zhizi Z; Su, Xueying X; Cai, Yanna Y; Ting, Tzer Hwu TH; Zhang, Wen W; Lin, Yunting Y; Xu, Aijing A; Mao, Xiaojian X; Zeng, Chunhua C; Liu, Li L; Li, Xiuzhen X

Publication Date: 2022-01-18

Variant appearance in text: ABCG5: Gln251Ter

PubMed Link: 35042526

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1619.pdf

View BVdb publication page

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Features of chinese patients with sitosterolemia.

Lipids In Health And Disease

Zhou, Zhizi Z; Su, Xueying X; Cai, Yanna Y; Ting, Tzer Hwu TH; Zhang, Wen W; Lin, Yunting Y; Xu, Aijing A; Mao, Xiaojian X; Zeng, Chunhua C; Liu, Li L; Li, Xiuzhen X

Publication Date: 2022-01-18

Variant appearance in text: ABCG5: Gln251Ter

PubMed Link: 35042526

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1619.pdf

View BVdb publication page

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Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy.

Frontiers In Genetics

Deng, Libin L; Xu, Jingsong J; Chen, Wei W; Guo, Shicheng S; Steiner, Robert D RD; Chen, Qi Q; Cheng, Zhujun Z; Xu, Yanmei Y; Yao, Bei B; Li, Xiaoyan X; Wang, Xiaozhong X; Deng, Keyu K; Schrodi, Steven J SJ; Zhang, Dake D; Xin, Hongbo H

Publication Date: 2021

Variant appearance in text: ABCG5: Q251X

PubMed Link: 34880906

Variant Present in the following documents:

View BVdb publication page

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Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature.

Internal Medicine (Tokyo, Japan)

Iyama, Keita K; Ikeda, Satoshi S; Koga, Seiji S; Yoshimuta, Tsuyoshi T; Kawano, Hiroaki H; Tsuji, Sosuke S; Ando, Koji K; Matsushima, Kayoko K; Tada, Hayato H; Kawashiri, Masa-Aki MA; Kawakami, Atsushi A; Maemura, Koji K

Publication Date: 2022-04-15

Variant appearance in text: ABCG5: 751C>T; Q251X

PubMed Link: 34615826

Variant Present in the following documents:

• 1349-7235-61-1169.pdf

View BVdb publication page

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Whole exome sequencing for diagnosis of hereditary thrombocytopenia.

Medicine

Mekchay, Ponthip P; Ittiwut, Chupong C; Ittiwut, Rungnapa R; Akkawat, Benjaporn B; Le Grand, Supang Maneesri SM; Leela-Adisorn, Netchanok N; Muanpetch, Suwanna S; Khovidhunkit, Weerapan W; Sosothikul, Darintr D; Shotelersuk, Vorasuk V; Suphapeetiporn, Kanya K; Rojnuckarin, Ponlapat P

Publication Date: 2020-11-20

Variant appearance in text: ABCG5: 751C>T; Gln251Ter

PubMed Link: 33217855

Variant Present in the following documents:

• Main text
• medi-99-e23275.pdf

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Genes Potentially Associated with Familial Hypercholesterolemia.

Biomolecules

Mikhailova, Svetlana S; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Shakhtshneider, Elena E

Publication Date: 2019-11-29

Variant appearance in text: ABCG5: Gln251X; rs140111105

PubMed Link: 31795497

Variant Present in the following documents:

• Main text
• biomolecules-09-00807.pdf

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Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.

Medicine

Huang, Dan D; Zhou, Qiong Q; Chao, Yun-Qi YQ; Zou, Chao-Chun CC

Publication Date: 2019-04

Variant appearance in text: ABCG5: 751C>T; Gln251*

PubMed Link: 30985648

Variant Present in the following documents:

• Main text
• medi-98-e15013.pdf

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: rs140111105

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s009.xlsx, sheet 1

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