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Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation
Author(s) -
Barea Jaime J.,
van Meel Eline,
Kornfeld Stuart,
Bird Lynne M.
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.37213
Subject(s) - calnexin , endoplasmic reticulum , golgi apparatus , transfection , mutant , immunofluorescence , biology , mutation , microbiology and biotechnology , wild type , antibody , genetics , gene , calreticulin