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Whole Exome Sequencing Identifies Multiple, Complex Etiologies in an Idiopathic Hereditary Pancreatitis Kindred

CONTEXT: Hereditary pancreatitis is the early onset form of chronic pancreatitis that is carried in an autosomal dominant pattern with variable penetrance. While 80% of HP has been shown to be due to a single mutation in the trypsinogen gene PRSS1, a number of HP families have no identified genetic...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: LaRusch, Jessica, Barmada, M. Michael, Solomon, Sheila, Whitcomb, David C.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2012
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3651649/
https://ncbi.nlm.nih.gov/pubmed/22572128
Etiketak: Etiketa erantsi
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