X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.

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Fransen E, Schrander-Stumpel C, Vits L, Coucke P, Van Camp G, Willems PJ

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.

Hum Mol Genet. 1994 Dec;3(12):2255-6.

PubMed ID
7881431 [ View in PubMed
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Polypeptides
NameUniProt ID
Neural cell adhesion molecule L1P32004Details