A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation-Reference-Cited by-同舟云学术

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation

Published:2017-07-28 Issue:1 Volume:18 Page:
ISSN:1474-760X
Container-title:Genome Biology
language:en
Short-container-title:Genome Biol

Author:

Patel Nisha,Khan Arif O.,Al-Saif Maher,Moghrabi Walid N.,AlMaarik Balsam M.,Ibrahim Niema,Abdulwahab Firdous,Hashem Mais,Alshidi Tarfa,Alobeid Eman,Alomar Rana A.,Al-Harbi Saad,Abouelhoda Mohamed,Khabar Khalid S. A.,Alkuraya Fowzan S.

Funder

King Salman Center for Disability Research

King Abdulaziz City for Science and Technology

Publisher

Springer Science and Business Media LLC

Link

http://link.springer.com/content/pdf/10.1186/s13059-017-1274-3.pdf

Reference37 articles.

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3. Ahluwalia JK, Hariharan M, Bargaje R, Pillai B, Brahmachari V. Incomplete penetrance and variable expressivity: is there a microRNA connection? Bioessays. 2009;31:981–92.

4. Clark TA, Schweitzer AC, Chen TX, Staples MK, Lu G, Wang H, et al. Discovery of tissue-specific exons using comprehensive human exon microarrays. Genome Biol. 2007;8:R64.

5. Pretorius PR, Aldahmesh MA, Alkuraya FS, Sheffield VC, Slusarski DC. Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Hum Mol Genet. 2011;20:1625–32.

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