Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease

American Journal of Medical Genetics

Volumn 92, Issue 1, 2000, Pages 40-46

  Finckh, Ulrich ^a   Schröder, Jutta ^a   Ressler, Bernadette ^a   Veske, Andres ^a   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

De novo mutations; DNA diagnostics; Genetic counseling; L1CAM; mRNA; X linked hydrocephalus

Indexed keywords

COMPLEMENTARY DNA; DNA; NERVE CELL ADHESION MOLECULE;

ARTICLE; DNA SEQUENCE; FAMILY HISTORY; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HYDROCEPHALUS; MAJOR CLINICAL STUDY; MENTAL RETARDATION MALFORMATION SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0343294007     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000501)92:1<40::AID-AJMG7>3.0.CO;2-R     Document Type: Article

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