...PMP22 gene, not a deletion, as stated in the table accompanying the article (p. 466).
...PMP22 gene would lead to an elevated expression of PMP22 and thereby cause the demyelinating phenotype of CMT1a. In the ...
...PMP22), we used single strand conformation analysis to examine this gene for mutations in the non-deleted HNPP family. A...
...PMP22, which maps within the duplication and encodes a myelin-specific protein, was identified from studies on the tremb...
...PMP22 mRNA transcription initiation sites to each of these exons indicates that PMP22 expression is regulated by two alt...
...PMP22 point mutation, and a 1.5 Mb deletion in 17p11.2-p12. A son heterozygous for the PMP22 point mutation had no signs...
...PMP22, or from PMP22 point mutation. Mutational analysis of the PMP22 coding region in two unrelated Dejerine-Sottas pat...
...PMP22 is at least one of the genes involved since the PMP22 gene maps within the CMT1A duplication (or HNPP deletion), a...
...PMP22 gene, encoding a peripheral myelin protein, maps within the duplication. In a subset of Charcot-Marie-Tooth patien...
...PMP22). GAS3/PMP22 is implicated in Charcot-Marie-Tooth disease type 1A, an inherited peripheral neuropathy.
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