Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
about
A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literatureA novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep.Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.Recent advances in renal phosphate handling.Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: identification as an allele of 'Hyp'.Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.Vitamin D metabolism and rickets in domestic animals: a review.Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets.A novel Phex mutation in a new mouse model of hypophosphatemic rickets.Clinical approach in familial hypophosphatemic rickets: report of three generations.PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets.Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
P2860
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P2860
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
@en
type
label
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
@en
prefLabel
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
@en
P2093
P2860
P1433
P1476
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.
@en
P2093
Andrea H Sorenson
Elizabeth A Traxler
Leah R Curry
Michelle L Johnson
Selina A Estwick
Shoji Ichikawa
P2860
P304
P356
10.1016/J.BONE.2008.06.002
P577
2008-06-18T00:00:00Z