Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
罕见的非编码突变扩展了伴有智力低下综合征的高磷酸酶症PGAP3亚型的突变谱
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23006
Knaus, Alexej; Awaya, Tomonari; Helbig, Ingo; Afawi, Zaid; Pendziwiat, Manuela; Abu-Rachma, Jubran; Thompson, Miles D; Cole, David E; Skinner, Steve; Annese, Fran; Canham, Natalie; Schweiger, Michal R; Robinson, Peter N; Mundlos, Stefan; Kinoshita, Taroh; Munnich, Arnold; Murakami, Yoshiko; Horn, Denise; Krawitz, Peter M
