A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS)

Journal of Medical Genetics

Volumn 35, Issue 6, 1998, Pages 456-462

  Du, Yang Zhu ^a   Dickerson, Cheryl ^b   Aylsworth, Arthur S ^c   Schwartz, Charles E ^a  

^a GREENWOOD GENETIC CENTER   (United States)

^b CAROLINAS MEDICAL CENTER   (United States)

^c UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Cryptic splice site; Fingerprinting (REF); L1CAM; Restriction endonuclease; Silent mutation

Indexed keywords

CELL ADHESION MOLECULE; DNA; RNA;

ARTICLE; CHILD; CLINICAL ARTICLE; CODON; CONSENSUS SEQUENCE; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DNA POLYMORPHISM; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HYDROCEPHALUS; MALE; MENTAL DEFICIENCY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; X CHROMOSOME LINKAGE;

EID: 0031745172     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.6.456     Document Type: Article

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