Pages that link to "Q71525413"
The following pages link to New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease (Q71525413):
Displaying 19 items.
- Connexins: a myriad of functions extending beyond assembly of gap junction channels (Q21245510) (← links)
- Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses (Q30495725) (← links)
- The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease (Q33680424) (← links)
- Molecular dissection of transjunctional voltage dependence in the connexin-32 and connexin-43 junctions (Q34171264) (← links)
- Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family (Q34733503) (← links)
- Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease (Q35895439) (← links)
- Do cell junction protein mutations cause an airway phenotype in mice or humans? (Q37836200) (← links)
- Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects (Q40242690) (← links)
- Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease (Q41082001) (← links)
- Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy (Q44340865) (← links)
- Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations (Q48918996) (← links)
- Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties. (Q48939785) (← links)
- A Founder Mutation in French-Canadian Families with X-linked Hereditary Neuropathy (Q61993757) (← links)
- Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings (Q72993307) (← links)
- The extent of synchronous initiation and termination of DNA synthesis in regenerating mouse liver is dependent on connexin32 expressing gap junctions (Q73715601) (← links)
- A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease (Q74127573) (← links)
- Molecular basis of neuromuscular diseases (Q77810812) (← links)
- Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease (Q78833539) (← links)
- The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity (Q93955870) (← links)