TY  - GEN
AU  - Grochowski,Christopher M
AU  - Rajagopalan,Ramakrishnan
AU  - Falsey,Alexandra M
AU  - Loomes,Kathleen M
AU  - Piccoli,David A
AU  - Krantz,Ian D
AU  - Devoto,Marcella
AU  - Spinner,Nancy B
TI  - Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome
SN  - 1552-4833
PY  - 2015///1214
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Alagille Syndrome
KW  - diagnosis
KW  - Base Sequence
KW  - Calcium-Binding Proteins
KW  - Child
KW  - DNA Mutational Analysis
KW  - Exome
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Intercellular Signaling Peptides and Proteins
KW  - Jagged-1 Protein
KW  - Male
KW  - Membrane Proteins
KW  - Pedigree
KW  - Receptor, Notch2
KW  - Serrate-Jagged Proteins
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.36946
ER  -