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Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.

X linked recessive hydrocephalus is the most common hereditary form of hydrocephalus. Genetic analysis indicates that the majority of cases are caused by mutations in a single gene in Xq28, recently identified as the gene for neural cell adhesion molecule L1. Genetic heterogeneity for this disorder...

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Detalhes bibliográficos
Main Authors: Jouet, M, Strain, L, Bonthron, D, Kenwrick, S
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051879/
https://ncbi.nlm.nih.gov/pubmed/8728703
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