Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.
about
Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.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.The developmental trajectory of brain-scalp distance from birth through childhood: implications for functional neuroimagingKbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: identification as an allele of 'Hyp'.Insights from genetic disorders of phosphate homeostasisMutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.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.Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
P2860
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P2860
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.
description
2011 nî lūn-bûn
@nan
2011 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մարտին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutational analysis of PHEX, F ...... with hypophosphatemic rickets.
@ast
Mutational analysis of PHEX, F ...... with hypophosphatemic rickets.
@en
Mutational analysis of PHEX, F ...... with hypophosphatemic rickets.
@nl
type
label
Mutational analysis of PHEX, F ...... with hypophosphatemic rickets.
@ast
Mutational analysis of PHEX, F ...... with hypophosphatemic rickets.
@en
Mutational analysis of PHEX, F ...... with hypophosphatemic rickets.
@nl
prefLabel
Mutational analysis of PHEX, F ...... with hypophosphatemic rickets.
@ast
Mutational analysis of PHEX, F ...... with hypophosphatemic rickets.
@en
Mutational analysis of PHEX, F ...... with hypophosphatemic rickets.
@nl
P2093
P2860
P1476
Mutational analysis of PHEX, F ...... with hypophosphatemic rickets.
@en
P2093
Barbara W Dominguez
Hope Northrup
Kit Sing Au
Mary D Ruppe
Patrick G Brosnan
Phong X Tran
P2860
P304
P356
10.1111/J.1365-2265.2010.03919.X
P577
2011-03-01T00:00:00Z