Cargando…
Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability
Mutations in the phosphate-regulating endopeptidase homolog, X-linked, gene (PHEX), which encodes a zinc-dependent endopeptidase that is involved in bone mineralization and renal phosphate reabsorption, cause the most common form of hypophosphatemic rickets, X-linked hypophosphatemic rickets (XLH)....
Autores principales: | Jap, Tjin-Shing, Chiu, Chih-Yang, Niu, Dau-Ming, Levine, Michael A. |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Springer-Verlag
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3075400/ https://www.ncbi.nlm.nih.gov/pubmed/21293852 http://dx.doi.org/10.1007/s00223-011-9465-5 |
Ejemplares similares
-
PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
por: Song, Hae-Ryong, et al.
Publicado: (2007) -
Identification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia
por: Yue, Hua, et al.
Publicado: (2014) -
A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets
por: Kawahara, Tetsuya, et al.
Publicado: (2015) -
A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets
por: Kang, Yea Eun, et al.
Publicado: (2014) -
Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets
por: Li, Shan-Shan, et al.
Publicado: (2016)