| 1 | DSS1, PMP22
|
| Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.
|
| Abe A, Nakamura K, Kato M, Numakura C, Honma T, Seiwa C, Shirahata E, Itoh A, Kishikawa Y, Hayasaka K.
|
| J Hum Genet 55(11):771-3. Epub 2010 Aug 26.
2010
|
| 2 | DSS1, PMP22
|
| Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.
|
| Al-Thihli K, Rudkin T, Carson N, Poulin C, Melançon S, Der Kaloustian VM.
|
| Am J Med Genet A 146A(18):2412-6.
2008
|
| 3 | DSS1, BRCA2
|
| DSS1 is required for the stability of BRCA2.
|
| Li J, Zou C, Bai Y, Wazer DE, Band V, Gao Q.
|
| Oncogene 25(8):1186-94. 2006
|
| 4 | DSS1,PMP22
|
| Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene.
|
| Jen J, Baloh RH, Ishiyama A, Baloh RW.
|
| J Neurol Sci 237(1-2):21-4. 2005
|
| 5 | CMT1A, DSS1, PMP22
|
| Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
|
| Parman Y, Plante-Bordeneuve V, Guiochon-Mantel A, Eraksoy M, Said G.
|
| Ann Neurol 45(4):518-22. 1999
|