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Article

Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations.

Molecular genetics & genomic medicine - 1 Nov 2021

Wei Ming, Ying Yanqin, Li Zhuxi, Weng Ying, Luo Xiaoping

Abstract excerpt

BACKGROUND: ACAN (OMIM 155760) is located on chromosome 15q26 and encodes the production of aggrecan. Aggrecan is a large chondroitin sulfate proteoglycan with a molecular weight of 254 kDa and contains 2530 amino acids. It is a critical structural component of the extracellular matrix of cartilage, including growth plate, articular, and intervertebral disk cartilage. It plays a key role in bone development....

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Identifiers

PMID: 34605228
DOI: 10.1002/mgg3.1823
PMCID: PMC8606199

Genes

ACAN

Variants

Provenance

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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Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations.PMID 34605228Read ↗

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