Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. [electronic resource]
Producer: 20151214Description: 891-3 p. digitalISSN:- 1552-4833
- Adenosine Triphosphatases -- genetics
- Alagille Syndrome -- diagnosis
- Base Sequence
- Calcium-Binding Proteins -- genetics
- Child
- DNA Mutational Analysis
- Exome
- Female
- Heterozygote
- Humans
- Intercellular Signaling Peptides and Proteins -- genetics
- Jagged-1 Protein
- Male
- Membrane Proteins -- genetics
- Pedigree
- Receptor, Notch2 -- genetics
- Serrate-Jagged Proteins
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Publication Type: Case Reports; Journal Article
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