X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. [electronic resource]
Producer: 19950309Description: 381-7 p. digitalISSN:- 0002-9297
- Amino Acid Sequence
- Base Sequence
- Female
- Genetic Linkage -- genetics
- Humans
- Infant
- Liver -- enzymology
- Male
- Molecular Sequence Data
- Mutation
- Phosphorylase Kinase -- biosynthesis
- Point Mutation
- Polymerase Chain Reaction
- RNA, Messenger -- biosynthesis
- Sequence Analysis, DNA
- Sequence Deletion
- Sequence Homology, Amino Acid
- X Chromosome
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Publication Type: Case Reports; Comparative Study; Journal Article
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