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Article

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.

European journal of pediatrics - 1 Mar 1995

Superti-Furga A, Eich G, Bucher H U, Wisser J, Giedion A, Gitzelmann R, Steinmann B

Abstract excerpt

Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arginine at position 380 (G380R) in the transmembrane domain of the receptor. We report on a newborn...

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

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PMID: 7758520
DOI: 10.1007/BF01954274

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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