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Human Mutation|July 17, 1999

A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. OnlineP M Smooker, T J Gough, R G Cotton, et al.

Blood|April 15, 1997

Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferationU Dianzani, M Bragardo, D DiFranco, et al.

European Journal of Human Genetics : EJHG|January 1, 1995

Characterization of phenylketonuria alleles in the Italian populationI Dianzani, S Giannattasio, L de Sanctis, et al.

Human Mutation|September 23, 1998

Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlationsI Dianzani, L de Sanctis, P M Smooker, et al.

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Showing results (1-10 of 4) with videos related to

Sort By:

Pageof 1

Human Mutation|July 17, 1999

A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. OnlineP M Smooker, T J Gough, R G Cotton, et al.

Blood|April 15, 1997

Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferationU Dianzani, M Bragardo, D DiFranco, et al.

European Journal of Human Genetics : EJHG|January 1, 1995

Characterization of phenylketonuria alleles in the Italian populationI Dianzani, S Giannattasio, L de Sanctis, et al.

Human Mutation|September 23, 1998

Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlationsI Dianzani, L de Sanctis, P M Smooker, et al.

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