Work

A Patient with Ehlers-Danlos Syndrome Type VI Is Homozygous for a Premature Termination Codon in Exon 14 of the Lysyl Hydroxylase 1 Gene

Year: 1999

Type: article

Study design: Case Report

Source: Molecular Genetics and Metabolism

DOI: 10.1006/mgme.1999.2824

Authors: Linda C. Walker, Joan C. Marini, Dorothy K. Grange, Jane Filie, Heather N. Yeowell

Institutions: Duke Medical Center, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Saint Louis University

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Institute on Aging, National Institute of Arthritis and Musculoskeletal and Skin Diseases

Awards: G1889823829, G2537161739

OpenAlex ID: W2063087757

FWCI: 1.35

Cites: 54

Cited by: 18

Related to: 10