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Article

Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia.

Chinese medical journal - 5 Jun 2007

Zhang Shi-rong, Zhou Xiao-qing, Ren Xiang, Wang Tian-tian, Yuan Ming-xiong, Wang Qing, Liu Jing-yu, Liu Mu-gen

Abstract excerpt

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Share to Achondroplasia
Share to Amino Acid Sequence
Share to FGFR3 gene
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to Polymorphism, Restriction Fragment Length

Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Identifiers

PMID: 17624273

Genes

FGFR3

Provenance

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Related research

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Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia.PMID 17624273Read ↗

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Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.Semantic proximity Read ↗

Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.Semantic proximity Read ↗

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.Semantic proximity Read ↗

[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)].Semantic proximity Read ↗

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.Semantic proximity Read ↗

Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant.Semantic proximity Read ↗

Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia.Semantic proximity Read ↗

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.Semantic proximity Read ↗

A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia.Semantic proximity Read ↗

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