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Results: 9

1.

Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.

Schneider A, Davidson JJ, W├╝llrich A, Kilimann MW.

Nat Genet. 1993 Dec;5(4):381-5.

PMID:
8298647
[PubMed - indexed for MEDLINE]
2.

Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure.

Kilimann MW.

J Inherit Metab Dis. 1990;13(4):435-41. Review.

PMID:
2122110
[PubMed - indexed for MEDLINE]
3.

Phosphorylase b kinase deficiency in man: a review.

Van den Berg IE, Berger R.

J Inherit Metab Dis. 1990;13(4):442-51. Review.

PMID:
2122111
[PubMed - indexed for MEDLINE]
4.

Genetic deficiencies of the glycogen phosphorylase system.

Hendrickx J, Willems PJ.

Hum Genet. 1996 May;97(5):551-6. Review.

PMID:
8655128
[PubMed - indexed for MEDLINE]
5.

Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure.

Brushia RJ, Walsh DA.

Front Biosci. 1999 Sep 15;4:D618-41. Review.

PMID:
10487978
[PubMed - indexed for MEDLINE]
6.

Adult phosphorylase b kinase deficiency.

Clemens PR, Yamamoto M, Engel AG.

Ann Neurol. 1990 Oct;28(4):529-38. Review.

PMID:
2252364
[PubMed - indexed for MEDLINE]
7.

Substrate and inhibitor recognition of protein kinases: what is known about the catalytic subunit of phosphorylase kinase?

Graves D, Bartleson C, Biorn A, Pete M.

Pharmacol Ther. 1999 May-Jun;82(2-3):143-55. Review.

PMID:
10454193
[PubMed - indexed for MEDLINE]
8.

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A.

Hum Mutat. 2000;15(3):209-19. Review.

PMID:
10679936
[PubMed - indexed for MEDLINE]
9.

Frameshift mutation: determinants of specificity.

Ripley LS.

Annu Rev Genet. 1990;24:189-213. Review. No abstract available.

PMID:
2088167
[PubMed - indexed for MEDLINE]

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