Open AccessJagged-1 MUTATIONS IN ITALIAN PATIENTS WITH ALAGILLE SYNDROME
Author(s) -
Giuseppe Pilia,
Manuela Uda,
Dolores Macis,
Franco Frau,
Fiorella Balli,
Cristiana Barbera,
Cristina Colombo,
T. Frediani,
P. Ganduglia,
Raffaele Iorio,
M. G. Marazzi,
Matilde Marcellini,
S Musumeci,
Gabriela Nebbia,
Pietro Vajro,
G Ruffa,
Lucia Zancan,
Aidi Cao,
S. DeVirgilis
Publication year - 1999
Publication title -
journal of pediatric gastroenterology and nutrition
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.206
H-Index - 131
eISSN - 1536-4801
pISSN - 0277-2116
DOI - 10.1097/00005176-199905000-00180
Subject(s) - jag1 , alagille syndrome , genetics , exon , mutation , point mutation , nonsense mutation , frameshift mutation , gene mutation , biology , gene duplication , gene , mutation testing , microbiology and biotechnology , medicine , notch signaling pathway , missense mutation , cholestasis , endocrinology