Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome type 2

Griscelli syndrome (GS), a rare autosomal recessive disorder characterized by partial albinism and immunological impairment and/or severe neurological impairment, results from mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes. We identified a Hispanic patient born of a consanguineous u...

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Detalhes bibliográficos
Main Authors: Vincent, Lisa M., Gilbert, Fred, DiPace, Jennifer I., Ciccone, Carla, Markello, Thomas C., Jeong, Andrew, Dorward, Heidi, Westbroek, Wendy, Gahl, William A., Bussel, James B., Huizing, Marjan
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2922439/
https://ncbi.nlm.nih.gov/pubmed/20591709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2010.05.015
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