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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Hum Mol Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2019
Konular:
General Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller