A Rare Haplotype of the RET Proto-Oncogene Is a Risk-Modifying Allele in Hirschsprung Disease

Hirschsprung disease (HSCR) is a common genetic disorder characterized by intestinal obstruction secondary to enteric aganglionosis. HSCR demonstrates a complex pattern of inheritance, with the RET proto-oncogene acting as a major gene and with several additional susceptibility loci related to the R...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Griseri, Paola, Pesce, Barbara, Patrone, Giovanna, Osinga, Jan, Puppo, Francesca, Sancandi, Monica, Hofstra, Robert, Romeo, Giovanni, Ravazzolo, Roberto, Devoto, Marcella, Ceccherini, Isabella
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: The American Society of Human Genetics 2002
Θέματα:
Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC378552/
https://ncbi.nlm.nih.gov/pubmed/12214285
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