A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

We report two unrelated families with multigenerational nonsyndromic intellectual disability (ID) segregating with a recurrent de novo missense variant (c.1543C>T:p.Leu515Phe) in the alkali cation/proton exchanger gene SLC9A7 (also commonly referred to as NHE7). SLC9A7 is located on human X chrom...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Khayat, Wujood, Hackett, Anna, Shaw, Marie, Ilie, Alina, Dudding-Byth, Tracy, Kalscheuer, Vera M, Christie, Louise, Corbett, Mark A, Juusola, Jane, Friend, Kathryn L, Kirmse, Brian M, Gecz, Jozef, Field, Michael, Orlowski, John
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6360272/
https://ncbi.nlm.nih.gov/pubmed/30335141
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy371
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