Premium
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome
Author(s) -
Grochowski Christopher M.,
Rajagopalan Ramakrishnan,
Falsey Alexandra M.,
Loomes Kathleen M.,
Piccoli David A.,
Krantz Ian D.,
Devoto Marcella,
Spinner Nancy B.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36946
Subject(s) - medicine , pediatric gastroenterology , pediatrics , hepatology , family medicine
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom