Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

The suggestion that the three X linked syndromes X linked spastic paraplegia (MIM 312900), MASA syndrome (MIM 303350), and X linked hydrocephalus owing to stenosis of the aqueduct of Sylvius (MIM 307000) are variable clinical manifestations of mutations at the same locus at Xq28 was confirmed by the...

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Detalhes bibliográficos
Main Authors: Ruiz, J C, Cuppens, H, Legius, E, Fryns, J P, Glover, T, Marynen, P, Cassiman, J J
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050549/
https://ncbi.nlm.nih.gov/pubmed/7562969
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