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Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.

Pelizaeus-Merzbacher disease (PMD) is a clinically heterogeneous, slowly progressive leukodystrophy. The recent detection of mutations in the myelin proteolipid protein (PLP) gene in several PMD patients offers the opportunity both to design DNA-based tests that would be useful in diagnosing a propo...

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Dettagli Bibliografici
Autori principali: Doll, R, Natowicz, M R, Schiffmann, R, Smith, F I
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1992
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682866/
https://ncbi.nlm.nih.gov/pubmed/1376966
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