Výsledky vyhledávání - "C E, Beesley"

The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online

Autor: C E, Beesley, A H, Child, M H, Yacoub

Publikováno v: Human mutation. 11(5)

The autosomal recessive disorder Glycogen Storage Type II (GSDII) is caused by a deficiency in the lysosomal enzyme acid alpha-glucosidase. We have optimised a procedure to use fluorescent DNA sequencing technology to screen for mutations within the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bfbb470a194e7898168ae274105594b5
https://pubmed.ncbi.nlm.nih.gov/10206684

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Cloning and nucleotide sequence of the gene encoding dinitrogenase reductase (nifH) from the cyanobacterium Nostoc 6720

Autor: Richard J. Smith, Peter J. Lea, S J Temple, C E Beesley

Publikováno v: Biochimica et biophysica acta. 1219(2)

The nucleotide sequence of the 3′ end of the nifU coding sequence, the complete coding sequence of nifH and a substantial part of the 5′ end of nifD coding sequence from Nostoc 6720 is presented. The coding sequences are highly conserved with tho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36d29f7d3816110af425100c60c30df9
https://pubmed.ncbi.nlm.nih.gov/7918657

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