TY  - GEN
AU  - van den Berg,I E
AU  - van Beurden,E A
AU  - Malingré,H E
AU  - van Amstel,H K
AU  - Poll-The,B T
AU  - Smeitink,J A
AU  - Lamers,W H
AU  - Berger,R
TI  - X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit
SN  - 0002-9297
PY  - 1995///0309
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Female
KW  - Genetic Linkage
KW  - genetics
KW  - Humans
KW  - Infant
KW  - Liver
KW  - enzymology
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Phosphorylase Kinase
KW  - biosynthesis
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - RNA, Messenger
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
KW  - Sequence Homology, Amino Acid
KW  - X Chromosome
N1  - Publication Type: Case Reports; Comparative Study; Journal Article
ER  -