Efficient Molecular Diagnostic Strategy for ABCC6 in Pseudoxanthoma Elasticum-Reference-Cited by-同舟云学术

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Efficient Molecular Diagnostic Strategy for ABCC6 in Pseudoxanthoma Elasticum

Published:2004-09 Issue:3 Volume:8 Page:292-300
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Hu Xiaofeng¹,Plomp Astrid¹²,Gorgels Theo¹,Ten Brink Jacoline¹,Loves Willem¹,Mannens Marcel²,De Jong Paulus T.V.M.¹³⁴,Bergen Arthur A.B.¹²

Affiliation:

1. Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands.

2. Department of Clinical Genetics, AMC, Amsterdam, The Netherlands.

3. Department of Ophthalmology, AMC, Amsterdam, The Netherlands.

4. Department of Epidemiology and Biostatistics, EUR, Rotterdam, The Netherlands.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2004.8.292

Reference23 articles.

1. Heteroduplex molecules formed between allelic sequences cause nonparental RAPD bands

2. Mutations in ABCC6 cause pseudoxanthoma elasticum

3. A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum

4. PSEUDOXANTHOMA ELASTICUM

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype;Journal of Clinical Medicine;2023-01-29

2. Genotype-phenotype correlation in pseudoxanthoma elasticum;Atherosclerosis;2021-05

3. The prevalence of pseudoxanthoma elasticum–like connective tissue changes in an oral biopsy service and review of the literature;Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology;2015-04

4. Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum;Clinical Biochemistry;2014-10

5. The ERCC6 Gene and Age-Related Macular Degeneration;PLoS ONE;2010-11-01

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