Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. [electronic resource]
Producer: 20060726Description: 753-8 p. digitalISSN:- 0022-3476
- Black or African American -- genetics
- Alkaline Phosphatase -- genetics
- Arginine -- genetics
- Child, Preschool
- Cysteine -- genetics
- Electrophoresis, Gel, Two-Dimensional
- Homozygote
- Humans
- Hypophosphatasia -- epidemiology
- Infant, Newborn
- Isoenzymes -- genetics
- Male
- Mutation, Missense
- Pedigree
- Prevalence
- RNA Splice Sites
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
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