Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.

Por Lamhonwah, A M, Gravel, R A
Publicado em 1987

Diagnostic heteroduplexes: simple detection of carriers of a 4-bp insertion mutation in Tay-Sachs disease.

Por Triggs-Raine, B L, Gravel, R A
Publicado em 1990

Human mitochondrial propionyl-CoA carboxylase: localization of the N-terminus of the pro- and mature alpha chains in the deduced primary sequence of a full-length cDNA.

Por Lamhonwah, A M, Mahuran, D, Gravel, R A
Publicado em 1989

Two PstI RFLPs in the PCCB gene on the long arm of chromosome 3.

Por Waye, J S, Gravel, R A, Willard, H F
Publicado em 1988

Analysis of genetic complementation by whole-cell microtechniques in fibroblast heterokaryons.

Por Gravel, R A, Leung, A, Saunders, M, Hösli, P
Publicado em 1979

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

Por Neote, K, McInnes, B, Mahuran, D J, Gravel, R A
Publicado em 1990

Isolation and characterization of the human catalase gene.

Por Quan, F, Korneluk, R G, Tropak, M B, Gravel, R A
Publicado em 1986

Evidence for two dissimilar polypeptide chains in the beta 2 subunit of hexosaminidase.

Por Mahuran, D J, Tsui, F, Gravel, R A, Lowden, J A
Publicado em 1982

Biological detection of specific mRNA molecules by microinjection.

Por Liu, C P, Slate, D L, Gravel, R, Ruddle, F H
Publicado em 1979

Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.

Por Gravel, R A, Lam, K F, Scully, K J, Hsia, Y
Publicado em 1977

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.

Por Gravel, R A, Mahoney, M J, Ruddle, F H, Rosenberg, L E
Publicado em 1975

Characterization of polypeptides serologically and structurally related to hexosaminidase in cultured fibroblasts.

Por Tsui, F, Mahuran, D J, Lowden, J A, Mosmann, T, Gravel, R A
Publicado em 1983

Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.

Por Triggs-Raine, B L, Akerman, B R, Clarke, J T, Gravel, R A
Publicado em 1991

Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.

Por León-Del-Rio, A, Leclerc, D, Akerman, B, Wakamatsu, N, Gravel, R A
Publicado em 1995

Biotin-response Organicaciduria: MULTIPLE CARBOXYLASE DEFECTS AND COMPLEMENTATION STUDIES WITH PROPIONICACIDEMIA IN CULTURED FIBROBLASTS

Por Saunders, M., Sweetman, L., Robinson, B., Roth, K., Cohn, R., Gravel, R. A.
Publicado em 1979

Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.

Por Saunders, M E, Sherwood, W G, Duthie, M, Surh, L, Gravel, R A
Publicado em 1982

Infant methionine synthase variants and risk for spina bifida

Por SHAW, G., TODOROFF, K., FINNELL, R., LAMMER, E., LECLERC, D., GRAVEL, R., ROZEN, R.
Publicado em 1999

An RFLP associated with the human catalase gene.

Por Quan, F, Korneluk, R G, MacLeod, H L, Tsui, L C, Gravel, R A
Publicado em 1985

Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.

Por Lamhonwah, A M, Barankiewicz, T J, Willard, H F, Mahuran, D J, Quan, F, Gravel, R A
Publicado em 1986

The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and N...

Por Robinson, B H, Oei, J, Saudubray, J M, Marsac, C, Bartlett, K, Quan, F, Gravel, R
Publicado em 1987