Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

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Standard

Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis. / Joergensen, Maiken T; Geisz, Andrea; Brusgaard, Klaus; Schaffalitzky de Muckadell, Ove B.; Hegyi, Péter; Gerdes, Anne-Marie Axø; Sahin-Tóth, Miklós.

I: Pancreas, Bind 40, Nr. 4, 2011, s. 540-6.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Joergensen, MT, Geisz, A, Brusgaard, K, Schaffalitzky de Muckadell, OB, Hegyi, P, Gerdes, A-MA & Sahin-Tóth, M 2011, 'Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis', Pancreas, bind 40, nr. 4, s. 540-6. https://doi.org/10.1097/MPA.0b013e3182152fdf

APA

Joergensen, M. T., Geisz, A., Brusgaard, K., Schaffalitzky de Muckadell, O. B., Hegyi, P., Gerdes, A-M. A., & Sahin-Tóth, M. (2011). Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis. Pancreas, 40(4), 540-6. https://doi.org/10.1097/MPA.0b013e3182152fdf

Vancouver

Joergensen MT, Geisz A, Brusgaard K, Schaffalitzky de Muckadell OB, Hegyi P, Gerdes A-MA o.a. Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis. Pancreas. 2011;40(4):540-6. https://doi.org/10.1097/MPA.0b013e3182152fdf

Author

Joergensen, Maiken T ; Geisz, Andrea ; Brusgaard, Klaus ; Schaffalitzky de Muckadell, Ove B. ; Hegyi, Péter ; Gerdes, Anne-Marie Axø ; Sahin-Tóth, Miklós. / Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis. I: Pancreas. 2011 ; Bind 40, Nr. 4. s. 540-6.

Bibtex

@article{8cb4a09b17bd4d8f99d0463500b1c615,
title = "Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis",
abstract = "In a hereditary pancreatitis family from Denmark, we identified a novel intragenic duplication of 9 nucleotides in exon-2 of the human cationic trypsinogen (PRSS1) gene (c.63_71dup) which at the amino-acid level resulted in the insertion of 3 amino acids within the activation peptide of cationic trypsinogen (p.K23_I24insIDK). The aim of the present study was to characterize the effect of this unique genetic alteration on the function of human cationic trypsinogen.",
author = "Joergensen, {Maiken T} and Andrea Geisz and Klaus Brusgaard and {Schaffalitzky de Muckadell}, {Ove B.} and P{\'e}ter Hegyi and Gerdes, {Anne-Marie Ax{\o}} and Mikl{\'o}s Sahin-T{\'o}th",
year = "2011",
doi = "http://dx.doi.org/10.1097/MPA.0b013e3182152fdf",
language = "English",
volume = "40",
pages = "540--6",
journal = "Pancreas",
issn = "0885-3177",
publisher = "Lippincott Williams & Wilkins",
number = "4",

}

RIS

TY - JOUR

T1 - Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

AU - Joergensen, Maiken T

AU - Geisz, Andrea

AU - Brusgaard, Klaus

AU - Schaffalitzky de Muckadell, Ove B.

AU - Hegyi, Péter

AU - Gerdes, Anne-Marie Axø

AU - Sahin-Tóth, Miklós

PY - 2011

Y1 - 2011

N2 - In a hereditary pancreatitis family from Denmark, we identified a novel intragenic duplication of 9 nucleotides in exon-2 of the human cationic trypsinogen (PRSS1) gene (c.63_71dup) which at the amino-acid level resulted in the insertion of 3 amino acids within the activation peptide of cationic trypsinogen (p.K23_I24insIDK). The aim of the present study was to characterize the effect of this unique genetic alteration on the function of human cationic trypsinogen.

AB - In a hereditary pancreatitis family from Denmark, we identified a novel intragenic duplication of 9 nucleotides in exon-2 of the human cationic trypsinogen (PRSS1) gene (c.63_71dup) which at the amino-acid level resulted in the insertion of 3 amino acids within the activation peptide of cationic trypsinogen (p.K23_I24insIDK). The aim of the present study was to characterize the effect of this unique genetic alteration on the function of human cationic trypsinogen.

U2 - http://dx.doi.org/10.1097/MPA.0b013e3182152fdf

DO - http://dx.doi.org/10.1097/MPA.0b013e3182152fdf

M3 - Journal article

VL - 40

SP - 540

EP - 546

JO - Pancreas

JF - Pancreas

SN - 0885-3177

IS - 4

ER -

ID: 40153654