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A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type
- Source :
- Clinical dysmorphology. 29(1)
- Publication Year :
- 2019
-
Abstract
- Not Available
- Subjects :
- Spondyloepiphyseal dysplasia
medicine.medical_specialty
Turkey
Turkish
media_common.quotation_subject
Nonsense
Nonsense mutation
sulfotransferase
Osteochondrodysplasias
Pathology and Forensic Medicine
carbohydrate sulfotransferases
chondrodysplasia
turkey (bird)
medicine
case report
stop codon
Humans
genetics
human
Child
Genetics (clinical)
media_common
child
business.industry
General Medicine
Dermatology
language.human_language
female
Codon, Nonsense
Pediatrics, Perinatology and Child Health
language
pathology
Female
Anatomy
Sulfotransferases
business
Subjects
Details
- ISSN :
- 14735717
- Volume :
- 29
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Clinical dysmorphology
- Accession number :
- edsair.doi.dedup.....d34e893f81be924ba3506f014b09c9eb