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    Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.

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    URI
    http://hdl.handle.net/11287/618202
    Author
    Arya, V.B.
    Guemes, M.
    Nessa, A.
    Alam, S.
    Shah, P.
    Gilbert, C.
    Senniappan, S.
    Flanagan, Sarah
    Ellard, Sian
    Hussain, K.
    Date
    2014-12
    Journal
    European journal of endocrinology / European Federation of Endocrine Societies
    Type
    Journal Article
    Publisher
    European Society of Endocrinology
    DOI
    10.1530/EJE-14-0353
    Rights
    Archived with thanks to European journal of endocrinology / European Federation of Endocrine Societies
    Metadata
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    Abstract
    Congenital hyperinsulinism (CHI) has two main histological types: diffuse and focal. Heterozygous paternally inherited ABCC8/KCNJ11 mutations (depending upon whether recessive or dominant acting and occurrence of somatic maternal allele loss) can give rise to either phenotype. However, the relative proportion of these two phenotypes in a large cohort of CHI patients due to paternally inherited heterozygous ABCC8/KCNJ11 mutations has not been reported.
    Citation
    Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. 2014, 171 (6):685-95 Eur. J. Endocrinol.
    Publisher URL
    http://www.eje-online.org/cgi/pmidlookup?view=long&pmid=25201519
    Collections
    • 2014 RD&E publications
    • Honorary contracts publications
    • Molecular Genetics

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