[HTML][HTML] Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus
C Colombo, O Porzio, M Liu, O Massa… - The Journal of …, 2008 - Am Soc Clin Investig
Permanent neonatal diabetes mellitus (PNDM) is a rare disorder usually presenting within 6
months of birth. Although several genes have been linked to this disorder, in almost half the
cases documented in Italy, the genetic cause remains unknown. Because the Akita mouse
bearing a mutation in the Ins2 gene exhibits PNDM associated with pancreatic β cell
apoptosis, we sequenced the human insulin gene in PNDM subjects with unidentified
mutations. We discovered 7 heterozygous mutations in 10 unrelated probands. In 8 of these …
months of birth. Although several genes have been linked to this disorder, in almost half the
cases documented in Italy, the genetic cause remains unknown. Because the Akita mouse
bearing a mutation in the Ins2 gene exhibits PNDM associated with pancreatic β cell
apoptosis, we sequenced the human insulin gene in PNDM subjects with unidentified
mutations. We discovered 7 heterozygous mutations in 10 unrelated probands. In 8 of these …
[CITATION][C] Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (SIEDP). Seven mutations in the human insulin gene …
C Colombo, O Porzio, M Liu, O Massa… - The Journal of Clinical …, 2008 - arpi.unipi.it
Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and
Diabetes (SIEDP). Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset
diabetes mellitus. IRIS IRIS Home Sfoglia Macrotipologie & tipologie Autore Titolo Riviste
Serie IT Italiano Italiano English English LOGIN 1.IRIS 2.Catalogo Ricerca UNIPI 3.1
Contributo su Rivista 4.1.1 Articolo in rivista Early Onset Diabetes Study Group of the Italian
Society of Pediatric Endocrinology and Diabetes (SIEDP). Seven mutations in the human …
Diabetes (SIEDP). Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset
diabetes mellitus. IRIS IRIS Home Sfoglia Macrotipologie & tipologie Autore Titolo Riviste
Serie IT Italiano Italiano English English LOGIN 1.IRIS 2.Catalogo Ricerca UNIPI 3.1
Contributo su Rivista 4.1.1 Articolo in rivista Early Onset Diabetes Study Group of the Italian
Society of Pediatric Endocrinology and Diabetes (SIEDP). Seven mutations in the human …