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Title : Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 - |
Author(s) : Travaglini L , Aiello C , Alesi V , Loddo S , Novelli A , Tozzi G , Bertini E , Leuzzi V , Brancati F |
Ref : Brain Dev , 39 :182 , 2017 |
PubMedID: 27639779 |
Title : Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants - Pisciotta_2017_Atherosclerosis_265_124 |
Author(s) : Pisciotta L , Tozzi G , Travaglini L , Taurisano R , Lucchi T , Indolfi G , Papadia F , Di Rocco M , D'Antiga L , Crock P , Vora K , Nightingale S , Michelakakis H , Garoufi A , Lykopoulou L , Bertolini S , Calandra S |
Ref : Atherosclerosis , 265 :124 , 2017 |
Abstract : Pisciotta_2017_Atherosclerosis_265_124 |
ESTHER : Pisciotta_2017_Atherosclerosis_265_124 |
PubMedSearch : Pisciotta_2017_Atherosclerosis_265_124 |
PubMedID: 28881270 |
Gene_locus related to this paper: human-LIPA |