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PMID: 8069317 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Human molecular genetics ·Vol. 3 ·No. 4 ·1994-04-00 ·Pages 671-3

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

Abstract

暂无摘要

Related Genes

L1CAM

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

Chemicals

Cell Adhesion Molecules, Neuronal Leukocyte L1 Antigen Complex

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Coucke P

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

Vits L

Van Camp G

Serville F

Lyonnet S

Kenwrick S

Rosenthal A

Wehnert M

Munnich A

Willems P J

Article Info

Journal

Human molecular genetics

Abbr.

Hum Mol Genet

ISSN

0964-6906

DOI

10.1093/hmg/3.4.671

Published

1994-04-00

Pages

671-3

Language

English

Region

England

NLM ID

9208958

Subset

External Links

PubMed source DOI: 10.1093/hmg/3.4.671 View journal details

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

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