Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

Three different genes of the glycosylphosphatidylinositol anchor synthesis pathway, PIGV, PIGO, and PGAP2, have recently been implicated in hyperphosphatasia-mental retardation syndrome (HPMRS), also known as Mabry syndrome, a rare autosomal recessive form of intellectual disability. The aim of this...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Horn, Denise, Wieczorek, Dagmar, Metcalfe, Kay, Barić, Ivo, Paležac, Lidija, Ćuk, Mario, Petković Ramadža, Danijela, Krüger, Ulrike, Demuth, Stephanie, Heinritz, Wolfram, Linden, Tobias, Koenig, Jens, Robinson, Peter N, Krawitz, Peter
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2014
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4023216/
https://ncbi.nlm.nih.gov/pubmed/24129430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.241
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller