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The Journal of Clinical Investigation|January 1, 1976
Localization of the membrane defect in transepithelial transport of taurine by parallel studies in vivo and in vitro in hypertaurinuric miceR W Chesney, C R Scriver, F MohyuddinHuman Mutation|December 29, 1999
Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progressC R Scriver, P M Nowacki, H LehväslaihoJournal of Bacteriology|November 1, 1970
Isolation and properties of a beta-alanine transaminaseless mutant of Pseudomonas fluorescensP Hechtman, C R Scriver, R B MiddletonHuman Mutation|August 19, 2006
CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH geneB C Murphy, C R Scriver, S M SinghJournal of Inherited Metabolic Disease|January 1, 1987
Effect of the X-linked Hyp mutation on N-ethylmaleimide labelling of proteins in renal brush border membraneE J Vizel, H S Tenenhouse, C R ScriverHuman Genetics|January 1, 1984
Osteogenesis imperfecta: a heterogeneous morphologic phenotype in cultured dermal fibroblastsA P Boright, G A Lancaster, C R ScriverAnalytical Biochemistry|May 3, 2000
Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and non-phenylketonuria hyperphenylalaninemiaC N Sarkissian, C R Scriver, O A MamerGenetical Research|August 1, 1993
Parental origin of mutant allele does not explain absence of gene dose in X-linked Hyp miceZ Q Qiu, H S Tenenhouse, C R ScriverHuman Mutation|January 1, 1997
Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populationsS Byck, L Tyfield, K Carter, et al.Birth Defects Original Article Series|June 1, 1971
The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasiaJ M Reynold, M B Gold, C R ScriverPageof 18