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Imperiu Recomandat Punct phex gene interval controlor Premier

XLH Overview | For HCPs
XLH Overview | For HCPs

FGF23, hypophosphatemia, and rickets: has phosphatonin been found? -  Abstract - Europe PMC
FGF23, hypophosphatemia, and rickets: has phosphatonin been found? - Abstract - Europe PMC

Functional Characterization of PHEX Gene Variants in Children With X‐Linked  Hypophosphatemic Rickets Shows No Evidence of Genotype–Phenotype  Correlation - Zheng - 2020 - Journal of Bone and Mineral Research - Wiley  Online Library
Functional Characterization of PHEX Gene Variants in Children With X‐Linked Hypophosphatemic Rickets Shows No Evidence of Genotype–Phenotype Correlation - Zheng - 2020 - Journal of Bone and Mineral Research - Wiley Online Library

Genes | Free Full-Text | Impact of X-Linked Hypophosphatemia on Muscle  Symptoms
Genes | Free Full-Text | Impact of X-Linked Hypophosphatemia on Muscle Symptoms

CASE REPORT MOLECULAR ANALYSIS CONCLUSION INTRODUCTION REFERENCES
CASE REPORT MOLECULAR ANALYSIS CONCLUSION INTRODUCTION REFERENCES

Phenotypes of a family with XLH with a novel PHEX mutation | Human Genome  Variation
Phenotypes of a family with XLH with a novel PHEX mutation | Human Genome Variation

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2633_5

Genotype–phenotype analysis, and assessment of the importance of the  zinc-binding site in PHEX in Japanese patients with X-linked  hypophosphatemic rickets using 3D structure modeling - ScienceDirect
Genotype–phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling - ScienceDirect

Novel PHEX gene locus-specific database
Novel PHEX gene locus-specific database

A novel c.2179T>C mutation blocked the intracellular transport of PHEX  protein and caused X‐linked hypophosphatemic rickets in a Chinese family -  Li - 2020 - Molecular Genetics & Genomic Medicine - Wiley
A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family - Li - 2020 - Molecular Genetics & Genomic Medicine - Wiley

JCI - Aberrant Phex function in osteoblasts and osteocytes alone underlies  murine X-linked hypophosphatemia
JCI - Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia

Mutation in Phex Gene Predisposes BALB/c-PhexHyp-Duk/Y Mice to Otitis Media  | PLOS ONE
Mutation in Phex Gene Predisposes BALB/c-PhexHyp-Duk/Y Mice to Otitis Media | PLOS ONE

Figure 2 from A Novel PHEX Gene Mutation in a Patient with Sporadic  Hypophosphatemic Rickets | Semantic Scholar
Figure 2 from A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets | Semantic Scholar

Frontiers | Clinical and Genetic Characteristics of 153 Chinese Patients  With X-Linked Hypophosphatemia
Frontiers | Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia

Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic  Rickets in a 7-Month-Old Infant - Kok Siong Poon, Andrew Anjian Sng, Cindy  Weili Ho, Evelyn Siew-Chuan Koay, Kah Yin Loke, 2015
Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant - Kok Siong Poon, Andrew Anjian Sng, Cindy Weili Ho, Evelyn Siew-Chuan Koay, Kah Yin Loke, 2015

Phosphorus metabolism in XLH. Inactivation of PHEX gene results in... |  Download Scientific Diagram
Phosphorus metabolism in XLH. Inactivation of PHEX gene results in... | Download Scientific Diagram

FGF23 and its role in X-linked hypophosphatemia-related morbidity |  Orphanet Journal of Rare Diseases | Full Text
FGF23 and its role in X-linked hypophosphatemia-related morbidity | Orphanet Journal of Rare Diseases | Full Text

PHEX gene mutation in a Chinese family with six cases of X-linked  hypophosphatemic rickets
PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets

X-linked Hypophosphatemic Rickets | Concise Medical Knowledge
X-linked Hypophosphatemic Rickets | Concise Medical Knowledge

Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with  X-linked hypophosphatemic rickets by the negative regulation mechanism on  FGF23 promoter transcription | Cell Death & Disease
Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription | Cell Death & Disease

A novel PHEX mutation associated with vitamin D-resistant rickets | Human  Genome Variation
A novel PHEX mutation associated with vitamin D-resistant rickets | Human Genome Variation

Diagram of the PHEX gene showing the mutations detected in this study... |  Download Scientific Diagram
Diagram of the PHEX gene showing the mutations detected in this study... | Download Scientific Diagram

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients  with Hypophosphatemic Rickets | PLOS ONE
Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets | PLOS ONE

Novel PHEX gene locus-specific database
Novel PHEX gene locus-specific database

Seven novel and six de novo PHEX gene mutations in patients with  hypophosphatemic rickets
Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets

PHEX Gene - GeneCards | PHEX Protein | PHEX Antibody
PHEX Gene - GeneCards | PHEX Protein | PHEX Antibody

Dual putative local/systemic function of PHEX in normal mineralization... |  Download Scientific Diagram
Dual putative local/systemic function of PHEX in normal mineralization... | Download Scientific Diagram