Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.
Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Christopher M
CM
Grochowski
Ramakrishnan
R
Rajagopalan
Alexandra M
AM
Falsey
Kathleen M
KM
Loomes
David A
DA
Piccoli
Ian D
ID
Krantz
Marcella
M
Devoto
Nancy B
NB
Spinner
D000251:Adenosine Triphosphatases / Q000235:genetics*; D016738:Alagille Syndrome / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D002135:Calcium-Binding Proteins / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D059472:Exome; D005260:Female; D006579:Heterozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D000072100:Jagged-1 Protein; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D010375:Pedigree; D051883:Receptor, Notch2 / Q000235:genetics; D000072099:Serrate-Jagged Proteins
D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; C497764:NOTCH2 protein, human; D051883:Receptor, Notch2; D000072099:Serrate-Jagged Proteins; D000251:Adenosine Triphosphatases; C111067:ATP8B1 protein, human