Beals Syndrome & Its Relationship to Marfan Syndrome

Maslen, Cheryl L.

Abstract

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Type: First Independent Research Support & Transition (FIRST) Awards (R29)
• Project #: 5R29AR041846-03
• Application #: 2081039
• Study Section: Pathobiochemistry Study Section (PBC)
• Project Start: 1994-09-15
• Project End: 1999-08-31
• Budget Start: 1996-09-01
• Budget End: 1997-08-31
• Support Year: 3
• Fiscal Year: 1996

Institution

• Name: Oregon Health and Science University
• Department: Internal Medicine/Medicine
• Type: Schools of Medicine
• DUNS #: 009584210
• City: Portland
• State: OR
• Country: United States
• Zip Code: 97239

Publications

Babcock, D; Gasner, C; Francke, U et al. (1998) A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. Hum Genet 103:22-8

Kuo, H J; Maslen, C L; Keene, D R et al. (1997) Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. J Biol Chem 272:26522-9

Maslen, C; Babcock, D; Raghunath, M et al. (1997) A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. Am J Hum Genet 60:1389-98