Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.

Reinstein, E

Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. [electronic resource] - Clinical genetics Jan 2018 - 160-163 p. digital

Publication Type: Journal Article

1399-0004

10.1111/cge.13018 doi


Amino Acid Sequence
Arabs
Arthrogryposis--genetics
Base Sequence
Consanguinity
Female
Genetic Predisposition to Disease--genetics
Homozygote
Humans
Israel
Male
Mutation
Pedigree
Vesicular Transport Proteins--genetics
Exome Sequencing--methods