An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.
about
Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses.A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.The PMP22 gene and its related diseases.DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndromeDetection of copy number variation by SNP-allelotyping.Chromosomal duplications in bacteria, fruit flies, and humansMolecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.Peripheral myelin protein 22 alters membrane architecture.Detection of tandem duplications and implications for linkage analysis.
P2860
Q30495725-6AC3F6FF-BD8F-493C-8205-5BFE657EC3E9Q30501423-4CB0EA3D-E182-49F0-BF0A-5877A0CA6CC7Q34316615-AEDBD905-B7EE-43BC-A447-C76754F95C0FQ34388841-59B81A65-020B-4C29-A0A4-94EFF0B3CE97Q34624454-01A4DBEC-AB2F-4660-ACCA-4E132F66C15DQ34732100-591735C4-F874-4075-A104-106053FC64D7Q35194948-0916F694-93EE-4448-BA73-AAAD7C62EA71Q40140383-37DECC24-B72A-4D24-AAB3-79775956106FQ42135631-18A36662-5D2F-4E71-BC22-12133A10A254
P2860
An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
An inherited DNA rearrangement ...... t-Marie-Tooth disease type 1A.
@ast
An inherited DNA rearrangement ...... t-Marie-Tooth disease type 1A.
@en
type
label
An inherited DNA rearrangement ...... t-Marie-Tooth disease type 1A.
@ast
An inherited DNA rearrangement ...... t-Marie-Tooth disease type 1A.
@en
prefLabel
An inherited DNA rearrangement ...... t-Marie-Tooth disease type 1A.
@ast
An inherited DNA rearrangement ...... t-Marie-Tooth disease type 1A.
@en
P1433
P1476
An inherited DNA rearrangement ...... t-Marie-Tooth disease type 1A.
@en
P2093
P304
P577
1992-12-01T00:00:00Z