Lataa...
Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation
Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by PLP1 mutations. A similar autosomal-recessive phenotype, Pelizaeus-Merzbacher-like disease (PMLD), has been shown to be caused by homozygous mutations in GJC2 or HSPD1. We report a consanguineous Israeli Bedouin kin...
Tallennettuna:
| Päätekijät: | , , , , , , , , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Elsevier
2010
|
| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2997381/ https://ncbi.nlm.nih.gov/pubmed/21092922 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.10.016 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|