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Prenatal diagnosis of L1 cell adhesion molecule mutations. Capabilities and limitations

Fetal Diagnosis and Therapy

Feb 15, 2002

Graciela E MoyaJose Maria Sanchez

Abstract

Discuss the capability for and limitations of prenatal detection of L1 cell adhesion molecule (L1CAM) mutations. Haplotype analysis by PCR and PAGE. Mutation detection by SSCP, followed by dideoxy sequencing. Confirmation of sequencing results with PCR and NcoI digestion. A 1-bp deletio...read more

Mentioned in this Paper

Exons
SDS-PAGE
Antenatal Screening Procedures
Gene Deletion Abnormality
Gestational Age
Genetic Pedigree
Prenatal brand of multivitamin
Sequencing
L1CAM
Deletion Mutation

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Prenatal diagnosis of L1 cell adhesion molecule mutations. Capabilities and limitations

Fetal Diagnosis and Therapy

Feb 15, 2002

Graciela E MoyaJose Maria Sanchez

PMID: 11844917

DOI: 10.1159/000048020

Abstract

Discuss the capability for and limitations of prenatal detection of L1 cell adhesion molecule (L1CAM) mutations. Haplotype analysis by PCR and PAGE. Mutation detection by SSCP, followed by dideoxy sequencing. Confirmation of sequencing results with PCR and NcoI digestion. A 1-bp deletio...read more

Mentioned in this Paper

Exons
SDS-PAGE
Antenatal Screening Procedures
Gene Deletion Abnormality
Gestational Age
Genetic Pedigree
Prenatal brand of multivitamin
Sequencing
L1CAM
Deletion Mutation

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