Article
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.
American journal of human genetics - 1 Feb 1995
van den Berg I E, van Beurden E A, Malingré H E, van Amstel H K, Poll-The B T, Smeitink J A, Lamers W H, Berger R
Abstract excerpt
Two Dutch patients with liver phosphorylase kinase (PhK) deficiency were studied for abnormalities in the PhK liver alpha (alpha L) subunit mRNA by reversed-transcribed-PCR (RT-PCR) and RNase protection assays. One patient, belonging to a large Dutch family that expresses X-linked liver PhK defic...
Topics
- Amino Acid Sequence
- Base Sequence
- Female
- Genetic Linkage
- Humans
- Infant
- Liver
- Male
- Molecular Sequence Data
- Mutation
- Phosphorylase Kinase
- Point Mutation
- Polymerase Chain Reaction
- RNA, Messenger
- Sequence Analysis, DNA