Biochemical basis for dominant inheritance, variable penetrance and maternal effects in RBP4 congenital eye disease

Gestational vitamin A (retinol) deficiency poses a risk for ocular birth defects and blindness. We identified missense mutations in RBP4, encoding serum retinol binding protein (RBP), in three families with eye malformations of differing severity. The mutant phenotypes exhibit dominant inheritance b...

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Detalhes bibliográficos
Publicado no:Cell
Main Authors: Chou, Christopher M., Nelson, Christine, Tarlè, Susan A., Pribila, Jonathan T., Bardakjian, Tanya, Woods, Sean, Schneider, Adele, Glaser, Tom
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4409664/
https://ncbi.nlm.nih.gov/pubmed/25910211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2015.03.006
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