CLPUB00661
Judith Fraser;
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
Judith Fraser, Gerald A. Lancaster, Charles Robert Scriver;
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
D.W. Smith, Charles Robert Scriver, Harriet S. Tenenhouse, Olli Simell;
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
Andrew Pepler Boright;
Prolidase deficiency: studies in human dermal fibroblasts.
Thesis PhD (1988); McGill University Montreal; Montreal; Canada

PubMed=2705457; PMCID=PMC1715628
Andrew Pepler Boright, Charles Robert Scriver, Gerald A. Lancaster, Francis Y.-M. Choy;
Prolidase deficiency: biochemical classification of alleles.
Am. J. Hum. Genet. 44:731-740(1989)

PubMed=1627352; DOI=10.1016/0885-4505(92)90029-x
David S. Rosenblatt, Helena Lue-Shing, A. Arzoumanian, Lawrence Low-Nang, Nora V. Matiaszuk;
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
Amber A. Qureshi, Ana M. Crane, Nora V. Matiaszuk, Iraj Rezvani, Fred D. Ledley, David S. Rosenblatt;
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
Sumedha Gulati, Zhi-Qiang Chen, Lawrence C. Brody, David S. Rosenblatt, Ruma Banerjee;
Defects in auxiliary redox proteins lead to functional methionine synthase deficiency.
J. Biol. Chem. 272:19171-19175(1997)