Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family

Hum Mol Genet. 1994 Apr;3(4):671-3. doi: 10.1093/hmg/3.4.671.

Authors

P Coucke¹, L Vits, G Van Camp, F Serville, S Lyonnet, S Kenwrick, A Rosenthal, M Wehnert, A Munnich, P J Willems

Affiliation

¹ Department of Medical Genetics, University of Antwerp-UIA, Belgium.

PMID: 8069317
DOI: 10.1093/hmg/3.4.671

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Cell Adhesion Molecules, Neuronal / genetics*
DNA Mutational Analysis
Female
Genes, Recessive
Humans
Hydrocephalus / genetics*
Introns*
Leukocyte L1 Antigen Complex
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction
Prenatal Diagnosis
RNA Splicing*
X Chromosome*

Substances

Cell Adhesion Molecules, Neuronal
Leukocyte L1 Antigen Complex