Identification of novel mutations in L1CAM gene by a DHPLC-based assay-Reference-Cited by-同舟云学术

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

Published:2016-08-09 Issue:12 Volume:38 Page:1159-1164
ISSN:1976-9571
Container-title:Genes & Genomics
language:en
Short-container-title:Genes Genom

Author:

Vinci Mirella^ORCID,Falco Michele,Castiglia Lucia,Grillo Lucia,Spalletta Angela,Sturnio Maurizio,Galesi Ornella,Salemi Michele,Gloria Angelo,Amata Silvestra,Piccione Maria,Antona Vincenzo,Vitello Girolamo Aurelio,Fichera Marco

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s13258-016-0460-0.pdf

Reference21 articles.

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3. Finckh U, Schröder J, Ressler B, Veske A, Gal A (2000) Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J Med Genet 92:40–46

4. Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1995) CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet 3:273–284

5. Fransen E, Van Camp G, Vits L, Willems PJ (1997) L1-associated diseases: clinical geneticists divide, molecular geneticists. Hum Mol Genet 6:1625–1632

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