PAPSS2 mutations cause autosomal recessive brachyolmia. [electronic resource]
Producer: 20121228Description: 533-8 p. digitalISSN:- 1468-6244
- Asian People
- Case-Control Studies
- Child
- Child, Preschool
- DNA Mutational Analysis
- Exons
- Female
- Genes, Recessive
- Genetic Heterogeneity
- Genetic Loci
- Genetic Predisposition to Disease
- Genetic Testing
- Heterozygote
- Humans
- Multienzyme Complexes -- genetics
- Mutation
- Osteochondrodysplasias -- diagnostic imaging
- Pedigree
- Phenotype
- Radiography
- Sulfate Adenylyltransferase -- genetics
- TRPV Cation Channels -- genetics
- Turkey
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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