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Article

Disease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach.

Applied biochemistry and biotechnology - 1 Mar 2013

Rajith B, George Priya Doss C

Abstract excerpt

In-depth computationally based structural analysis of human fibroblast growth factor type 1 (FGFR1) protein carrying disease-causing mutation was performed in this study. Gain or loss of function due to missense mutations in FGFR1 is responsible for a variety of disorders including Kallmann syndrome, Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, etc. The mutant model of the human FGFR1 protein was...

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Source

Identifiers

PMID: 23329143
DOI: 10.1007/s12010-012-0061-6

Genes

FGFR1

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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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