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Article

Novel L1CAM splice site mutation in a young male with L1 syndrome.

American journal of medical genetics. Part A - 1 Feb 2011

Rehnberg Malin, Jonasson Jon, Gunnarsson Cecilia

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Share to Abnormalities, Multiple
Share to Genes, Recessive
Share to Mutation
Share to Neural Cell Adhesion Molecule L1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to RNA Splice Sites

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Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 21271669
DOI: 10.1002/ajmg.a.33803

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Novel L1CAM splice site mutation in a young male with L1 syndrome.PMID 21271669Read ↗

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Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.Semantic proximity Read ↗

Three cases with L1 syndrome and two novel mutations in the L1CAM gene.Semantic proximity Read ↗

A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII.Semantic proximity Read ↗

A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus.Semantic proximity Read ↗

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