A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. [electronic resource]
Producer: 20170522Description: 90-5 p. digitalISSN:- 1399-0004
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- Consanguinity
- Disease Progression
- Exome
- Female
- Gene Expression
- Hearing Loss, Bilateral -- complications
- Heart Valve Diseases -- complications
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Models, Molecular
- Mutation
- Osteochondrodysplasias -- complications
- Pedigree
- Phenotype
- Sulfotransferases -- genetics
- Carbohydrate Sulfotransferases
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
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