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An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome
- Source :
- American journal of medical genetics. Part A. (16)
- Publication Year :
- 2008
- Subjects :
- Genetics
Male
business.industry
Developmental Disabilities
Infant
Nuclear Proteins
Hoyeraal-Hreidarsson syndrome
Cell Cycle Proteins
Syndrome
medicine.disease
Introns
Amino Acid Substitution
Cerebellum
Mutation
Intronic Mutation
Medicine
Humans
Abnormalities, Multiple
RNA Splice Sites
business
Genetics (clinical)
Subjects
Details
- ISSN :
- 15524833
- Issue :
- 16
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics. Part A
- Accession number :
- edsair.doi.dedup.....317b64bfea83cd3a0356173ee9aeda02