Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

BACKGROUND: Juvenile‐onset cataracts are known among the Hutterites of North America. Despite being identified over 30 years ago, this autosomal recessive condition has not been mapped, and the disease gene is unknown. METHODS: We performed whole exome sequencing of three Hutterite‐type cataract tri...

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Detalles Bibliográficos
Autores principales: Boone, Philip M., Yuan, Bo, Gu, Shen, Ma, Zhiwei, Gambin, Tomasz, Gonzaga‐Jauregui, Claudia, Jain, Mahim, Murdock, Todd J., White, Janson J., Jhangiani, Shalini N., Walker, Kimberly, Wang, Qiaoyan, Muzny, Donna M., Gibbs, Richard A., Hejtmancik, J. Fielding, Lupski, James R., Posey, Jennifer E., Lewis, Richard A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707028/
https://www.ncbi.nlm.nih.gov/pubmed/26788539
http://dx.doi.org/10.1002/mgg3.181

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