Article
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
Human molecular genetics - 1 Aug 1995
Attié T, Pelet A, Edery P, Eng C, Mulligan L M, Amiel J, Boutrand L, Beldjord C, Nihoul-Fékété C, Munnich A
Abstract excerpt
Hirschsprung disease (HSCR) is a common congenital malformation (1 in 5,000 live births) due to the absence of autonomic ganglia in the terminal hindgut, and resulting in intestinal obstruction in neonates. Recently, a dominant gene for familial HSCR has been mapped to chromosome sub-band 10q11.2 and the disease has been ascribed to mutations in a tyrosine kinase receptor gene mapping to this region, the RET...
Topics
- Base Sequence
- Chromosome Mapping
- DNA Primers
- Drosophila Proteins
- Female
- Genetic Variation
- Genotype
- Hirschsprung Disease
- Humans
- Male
- Molecular Sequence Data