Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

Five novel mutations have been identified in the gene encoding L1CAM, a neural cell adhesion protein, in families with X linked hydrocephalus (XHC). Interestingly, all five mutations are in the evolutionarily highly conserved Ig-like domains of the protein. The two frameshift mutations (52insC and 9...

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Bibliografski detalji
Glavni autori: Gu, S M, Orth, U, Veske, A, Enders, H, Klunder, K, Schlosser, M, Engel, W, Schwinger, E, Gal, A
Format: Artigo
Jezik:Inglês
Izdano: 1996
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051833/
https://ncbi.nlm.nih.gov/pubmed/8929944
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