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Article

Design of primers for direct sequencing of nine coding exons in the human ACVR1 gene.

Bone - 1 Sept 2020

Matsuoka Masaru, Tsukamoto Sho, Orihara Yuta, Kawamura Rieko, Kuratani Mai, Haga Nobuhiko, Ikebuchi Kenji, Katagiri Takenobu

Abstract excerpt

The human ACVR1 gene encodes a transmembrane protein consisting of 509 amino acids called activin A receptor, type I (ACVR1) or activin receptor-like kinase 2 (ALK2) and has nine coding exons. The ALK2 protein functions as a signaling receptor for ligands of the transforming growth factor-β family. In the human ACVR1 gene, approximately 20 types of heterozygotic mutations in the coding exons have been associated...

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Identifiers

PMID: 32512165
DOI: 10.1016/j.bone.2020.115469

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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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