Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
Year: 1992
Type: article
Study design: Case Report
Source: PubMed
Institution: Thomas Jefferson University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W1585554611
