A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins
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چکیده
منابع مشابه
A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins
BACKGROUND Permanent neonatal diabetes mellitus (PNDM) is a rare disorder, characterized by uncontrolled hyperglycemia diagnosed during the first 6 months of life. In general, PNDM has a genetic origin and most frequently it results from heterozygous mutations in KCNJ11, INS and ABCC8 genes. Homozygous or compound heterozygous inactivating mutations in GCK gene as cause of PNDM are rare. In con...
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We report 10 heterozygous mutations in the human insulin gene in 16 probands with neonatal diabetes. A combination of linkage and a candidate gene approach in a family with four diabetic members led to the identification of the initial INS gene mutation. The mutations are inherited in an autosomal dominant manner in this and two other small families whereas the mutations in the other 13 patient...
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چکیده ندارد.
15 صفحه اولPermanent neonatal diabetes mellitus
BACKGROUND Neonatal diabetes is a rare cause of hyperglycemia, affecting 1: 500,000 births, with persistent hyperglycemia occurring in the first months of life lasting more than 2 weeks and requiring insulin. This condition in infants less than 6 months of age is considered as permanent neonatal diabetes mellitus. CASE REPORT A rare case of permanent neonatal diabetes mellitus presented with ...
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ژورنال
عنوان ژورنال: Diabetology & Metabolic Syndrome
سال: 2015
ISSN: 1758-5996
DOI: 10.1186/s13098-015-0101-9