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X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
Department of Medical Genetics, University of Antwerp-UIA, Belgium.
PMID: 7881431 [PubMed - indexed for MEDLINE]
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Cited by 6 PubMed Central articles
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A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
Du YZ, Dickerson C, Aylsworth AS, Schwartz CE.
J Med Genet. 1998 Jun; 35(6):456-62.
[J Med Genet. 1998]
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CRASH syndrome: mutations in L1CAM correlate with severity of the disease.
Yamasaki M, Thompson P, Lemmon V.
Neuropediatrics. 1997 Jun; 28(3):175-8.
[Neuropediatrics. 1997]
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Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.
Bateman A, Jouet M, MacFarlane J, Du JS, Kenwrick S, Chothia C.
EMBO J. 1996 Nov 15; 15(22):6050-9.
[EMBO J. 1996]
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