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American Journal of Medical Genetics|April 1, 1988
Achondroplasia is not caused by mutation in the gene for type II collagenC A Francomano, R E PyeritzAmerican Journal of Medical Genetics|February 1, 1988
Marfan syndrome: exclusion of genetic linkage to three major collagen genesC A Francomano, E A Streeten, D A Meyers, et al.Human Mutation|January 1, 1992
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domainsH C Dietz, J M Saraiva, R E Pyeritz, et al.Science (New York, N.Y.)|January 29, 1993
The skipping of constitutive exons in vivo induced by nonsense mutationsH C Dietz, D Valle, C A Francomano, et al.Genomics|August 1, 1993
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndromeH C Dietz, I McIntosh, L Y Sakai, et al.Genomics|December 1, 1987
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagenC A Francomano, R M Liberfarb, T Hirose, et al.American Journal of Human Genetics|July 1, 1995
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic ampliconsG Nijbroek, S Sood, I McIntosh, et al.Genomics|February 1, 1991
The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3H C Dietz, R E Pyeritz, B D Hall, et al.American Journal of Medical Genetics|September 1, 1989
Pleiotropy revisited: molecular explanations of a classic conceptR E PyeritzPageof 20