The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

Dieterich, Klaus

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. [electronic resource] - Human molecular genetics Apr 2013 - 1483-92 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/dds514 doi


Animals
Arthrogryposis--embryology
Central Nervous System--pathology
Chromosome Mapping
Consanguinity
Embryonic Development--genetics
Genes, Recessive
Genetic Linkage
Homozygote
Humans
Metalloendopeptidases--genetics
Mice
Motor Neurons--pathology
Mutation
Pedigree
Phenotype