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Prenatal identification of a novel R937P L1CAM missense mutation.
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Prenatal identification of a novel R937P L1CAM missense mutation.
Prenatal identification of a novel R937P L1CAM missense mutation. Genet Test Mol Biomarkers. 2009 Aug; 13(4):515-9.
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PubMed
subject areas
Fatal Outcome
Fatal Outcome
Female
Female
Genetic Diseases, X-Linked
Genetic Diseases, X-Linked
Humans
Humans
Hydrocephalus
Hydrocephalus
Male
Male
Mutation, Missense
Mutation, Missense
Neural Cell Adhesion Molecule L1
Neural Cell Adhesion Molecule L1
Pregnancy
Pregnancy
Prenatal Diagnosis
Prenatal Diagnosis
Sequence Analysis, DNA
Sequence Analysis, DNA
Ultrasonography, Prenatal
Ultrasonography, Prenatal
Young Adult
Young Adult
authors with profiles
Patrick L Wilson