CLPUB00661
Fraser J.
Collagen metabolism by fibroblasts from normals and individuals with osteogenesis imperfecta.
Thesis PhD (1980); McGill University Montreal; Montreal; Canada

PubMed=6221880; DOI=10.3109/03008208309015011
Fraser J., Lancaster G.A., Scriver C.R.
Secreted collagen ratios in normal human and osteogenesis imperfecta skin fibroblasts.
Connect. Tissue Res. 11:57-67(1983)

PubMed=3478720; DOI=10.1073/pnas.84.21.7711; PMCID=PMC299370
Smith D.W., Scriver C.R., Tenenhouse H.S., Simell O.
Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts.
Proc. Natl. Acad. Sci. U.S.A. 84:7711-7715(1987)

CLPUB00453
Boright A.P.
Prolidase deficiency: studies in human dermal fibroblasts.
Thesis PhD (1988); McGill University Montreal; Montreal; Canada

PubMed=2705457; PMCID=PMC1715628
Boright A.P., Scriver C.R., Lancaster G.A., Choy F.Y.-M.
Prolidase deficiency: biochemical classification of alleles.
Am. J. Hum. Genet. 44:731-740(1989)

PubMed=1627352; DOI=10.1016/0885-4505(92)90029-x
Rosenblatt D.S., Lue-Shing H., Arzoumanian A., Low-Nang L., Matiaszuk N.V.
Methylenetetrahydrofolate reductase (MR) deficiency: thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts.
Biochem. Med. Metab. Biol. 47:221-225(1992)

PubMed=7909321; DOI=10.1172/JCI117166; PMCID=PMC294249
Qureshi A.A., Crane A.M., Matiaszuk N.V., Rezvani I., Ledley F.D., Rosenblatt D.S.
Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.
J. Clin. Invest. 93:1812-1819(1994)

PubMed=9235907; DOI=10.1074/jbc.272.31.19171
Gulati S., Chen Z.-Q., Brody L.C., Rosenblatt D.S., Banerjee R.
Defects in auxiliary redox proteins lead to functional methionine synthase deficiency.
J. Biol. Chem. 272:19171-19175(1997)