Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.
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Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease. / Fitze, Guido; Cramer, Jakob; Ziegler, Andreas; Schierz, Mandy; Schreiber, Matthias; Kuhlisch, Eberhard; Roesner, Dietmar; Schackert, Hans K.
in: LANCET, Jahrgang 359, Nr. 9313, 9313, 2002, S. 1200-1205.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.
AU - Fitze, Guido
AU - Cramer, Jakob
AU - Ziegler, Andreas
AU - Schierz, Mandy
AU - Schreiber, Matthias
AU - Kuhlisch, Eberhard
AU - Roesner, Dietmar
AU - Schackert, Hans K
PY - 2002
Y1 - 2002
N2 - Several genes, including the major susceptibility gene RET, have roles in development of Hirschsprung's disease. Results of genetic-linkage analysis of patients with familial disease with both long-segment and short-segment phenotypes have shown close linkage with the RET locus. We aimed to investigate whether both RET mutations and polymorphisms contribute to phenotype of Hirschsprung's disease.
AB - Several genes, including the major susceptibility gene RET, have roles in development of Hirschsprung's disease. Results of genetic-linkage analysis of patients with familial disease with both long-segment and short-segment phenotypes have shown close linkage with the RET locus. We aimed to investigate whether both RET mutations and polymorphisms contribute to phenotype of Hirschsprung's disease.
M3 - SCORING: Zeitschriftenaufsatz
VL - 359
SP - 1200
EP - 1205
JO - LANCET
JF - LANCET
SN - 0140-6736
IS - 9313
M1 - 9313
ER -