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Article

A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets

8 Mar 2010

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 20213538
DOI: 10.1007/s00774-010-0169-0

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Related research

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A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic ricketsPMID 20213538Read ↗

The role of DMP1 in autosomal recessive hypophosphatemic rickets.Semantic proximity Read ↗

The First Compound Heterozygous Mutations of DMP1 Causing Rare Autosomal Recessive Hypophosphatemic Rickets Type 1.Semantic proximity Read ↗

First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.Semantic proximity Read ↗

Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese GirlSemantic proximity Read ↗

[Autosomal recessive hypophosphatemic rickets/osteomalacia caused by a novel mutation in the DMP1 gene: a case report and literature review].Semantic proximity Read ↗

Clinical Characteristics and Bone Features of Autosomal Recessive Hypophosphatemic Rickets Type 1 in Three Chinese Families: Report of Five Chinese Cases and Review of the LiteratureSemantic proximity Read ↗

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.Semantic proximity Read ↗

A novel compound heterozygous mutation of MYSM1 gene in a patient with bone marrow failure syndrome 4.Semantic proximity Read ↗

Genetic and clinical profile of patients with hypophosphatemic ricketsSemantic proximity Read ↗

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic ricketsSemantic proximity Read ↗

Novel Compound Nonsense Variant in the CYP27B1 Cause an Atypical Form of Vitamin D-Dependent Rickets Type 1A: Case Report in Two Siblings in a Mexican FamilySemantic proximity Read ↗

Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders.Semantic proximity Read ↗

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