Prenatal Identification of a Novel R937P L1CAM Missense Mutation-Reference-Cited by-同舟云学术

Prenatal Identification of a Novel R937P L1CAM Missense Mutation

Published:2009-08 Issue:4 Volume:13 Page:515-519
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Wilson Patrick L.¹,Kattman Brandi Blaisdell²,Mulvihill John J.³,Li Shibo³,Wilkins Jesse¹,Wagner Andrew F.¹,Goodman Jean R.¹

Affiliation:

1. Section of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Prenatal Diagnostic Center, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.

2. GeneDx, Gaithersburg, Maryland.

3. Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2009.0017

Reference14 articles.

1. Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.

2. Fetal hydrocephalus

3. Multiple exon screening using restriction endonuclease fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene

4. Genotype-phenotype correlation in L1 associated diseases.

5. L1-associated diseases: clinical geneticists divide, molecular geneticists unite

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