Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.
Grochowski, Christopher M
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. [electronic resource] - American journal of medical genetics. Part A Apr 2015 - 891-3 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.36946 doi
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
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. [electronic resource] - American journal of medical genetics. Part A Apr 2015 - 891-3 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.36946 doi
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