Publications:

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

Bmc Medical Genetics

Javadiyan, Shari S; Craig, Jamie E JE; Sharma, Shiwani S; Lower, Karen M KM; Casey, Theresa T; Haan, Eric E; Souzeau, Emmanuelle E; Burdon, Kathryn P KP

Publication Date: 2017-05-08

Variant appearance in text: c-MAF: Arg299Ser

PubMed Link: 28482824

Variant Present in the following documents:

• Main text
• 12881_2017_Article_414.pdf

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Structural basis of alternative DNA recognition by Maf transcription factors.

Molecular And Cellular Biology

Kurokawa, Hirofumi H; Motohashi, Hozumi H; Sueno, Shinji S; Kimura, Momoko M; Takagawa, Hiroaki H; Kanno, Yousuke Y; Yamamoto, Masayuki M; Tanaka, Toshiyuki T

Publication Date: 2009-12

Variant appearance in text: c-MAF: R299S

PubMed Link: 19797082

Variant Present in the following documents:

• Main text

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