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- Title
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.
- Authors
Doray, Bérénice; Salomon, Rémi; Amiel, Jeanne; Pelet, Anna; Touraine, Renaud; Billaud, Marc; Attié, Tania; Bachy, Bruno; Munnich, Arnold; Lyonnet, Stanislas
- Abstract
Examines heterozygous missense mutation of the RET ligand, neurturin (NTN), which supports the multigenic pattern of inheritance in Hirschsprung disease. Coding sequence of the NTN gene on chromosome 19p13.3; Effects of wild-type and mutant partners of the RET signalling pathway; Primers used to amplify the two exons of the NTN gene.
- Subjects
GENETIC mutation; LIGANDS (Biochemistry); HIRSCHSPRUNG'S disease; GENETIC code; EXONS (Genetics); GENETICS
- Publication
Human Molecular Genetics, 1998, Vol 7, Issue 9, p1449
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/7.9.1449