A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene. [electronic resource]
Producer: 20020219Description: 125-9 p. digitalISSN:- 1107-3756
- Child
- Child, Preschool
- Codon -- genetics
- Czech Republic
- DNA Mutational Analysis
- Exons -- genetics
- Fatal Outcome
- Female
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation, Missense -- genetics
- Myelin Proteolipid Protein -- genetics
- Pedigree
- Pelizaeus-Merzbacher Disease -- genetics
- Phenotype
- Restriction Mapping
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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