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Article

Normal bone density and fat mass in heterozygous SERPINF1 mutation carriers.

The Journal of clinical endocrinology and metabolism - 1 Nov 2014

Al-Jallad Hadil, Palomo Telma, Moffatt Pierre, Roughley Peter, Glorieux Francis H, Rauch Frank

Abstract excerpt

CONTEXT: Homozygous mutations in SERPINF1 cause deficiency of pigment epithelium-derived factor (PEDF) and lead to osteogenesis imperfecta (OI) type VI, but it is not known whether heterozygous mutations in SERPINF1 cause a phenotype. OBJECTIVE: In the present study, we therefore assessed family members of individuals with OI type VI and compared the results of SERPINF1 mutation carriers with those of noncarriers...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25127091
DOI: 10.1210/jc.2014-2505

Genes

SERPINF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Normal bone density and fat mass in heterozygous SERPINF1 mutation carriers.PMID 25127091Read ↗

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