Ontology highlight
ABSTRACT:
SUBMITTER: Kurban M
PROVIDER: S-EPMC2969160 | biostudies-literature | 2010
REPOSITORIES: biostudies-literature
Kurban Mazen M Wajid Muhammad M Shimomura Yutaka Y Christiano Angela M AM
Dermatology (Basel, Switzerland) 20100713 2
<h4>Background</h4>Congenital insensitivity to pain (CIP) (OMIM 243000) is a rare autosomal-recessive disorder. Clinically, CIP is characterized by insensitivity to all modalities of pain except neuropathic pain, and recurrent injuries frequently go unnoticed. CIP is caused by mutations in the SCN9A gene encoding for the Na1.7 channel.<h4>Methods</h4>We analyzed the DNA from members of a consanguineous Pakistani family for mutations in the SCN9A gene through direct sequencing after performing li ...[more]