Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects.

Author:

Kielty C M,Davies S J,Phillips J E,Jones C J,Shuttleworth C A,Charles S J

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes;Lee, B.; Godfrey, M.; Vitale, E.;Nature,1991

2. Linkage analysis demonstrates that Marfan syndrome, dominant ectopia lentis and congenital contractural arachnodactyly are linked to the fibrillin genes on chromosomes 15 and 5;Tsipouras, P.; Del Mastro, R.; Sarfarazi, M.;N Engl Med,1992

3. The Marfan syndrome;Pyeritz, R.E.,1993

4. Fibrillin, a new 350kD glycoprotein, is a component of extracellular microfibrils;Sakai, L.Y.; Kenne, D.R.; Engvall, E.,1986

5. Purification and partial characterisation of fibrillin, a cysteine-rich structural component of connective tissue microfibrils..7 Biol;Sakai, L.Y.; Keene, D.R.; Glanville, R.W.; Bachinger, H.P.;Chemn,1991

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