Abstract |
|
Authors | S Tsujino, S Shanske, J E Carroll, R L Sabina, S DiMauro |
Journal | Neuromuscular disorders : NMD
(Neuromuscul Disord)
Vol. 5
Issue 4
Pg. 263-6
(Jul 1995)
ISSN: 0960-8966 [Print] England |
PMID | 7580237
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
|
Chemical References |
- Codon, Nonsense
- Phosphorylases
- AMP Deaminase
|
Topics |
- AMP Deaminase
(deficiency, genetics)
- Base Sequence
- Child, Preschool
- Codon, Nonsense
(metabolism)
- Female
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
(physiology)
- Pedigree
- Phenotype
- Phosphorylases
(deficiency, genetics)
|