Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. [electronic resource]
Producer: 20141203Description: e87250 p. digitalISSN:- 1932-6203
- ATP-Binding Cassette Transporters -- genetics
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- DNA Mutational Analysis
- Exome -- genetics
- Family Health
- Female
- Genetic Predisposition to Disease -- genetics
- Genome-Wide Association Study -- methods
- Humans
- Immunohistochemistry
- Lod Score
- Male
- Melanocytes -- metabolism
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Pigmentation Disorders -- congenital
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Homology, Amino Acid
- Sequence Homology, Nucleic Acid
- Skin -- metabolism
- Skin Diseases, Genetic -- genetics
- Zebrafish -- embryology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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