Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.

Human mutation

Volumn 23, Issue 5, 2004, Pages 526-

  Hübner, Christian A ^a   Utermann, Barbara ^a   Tinschert, Sigrid ^a   Krüger, Gabriele ^a   Ressler, Bernadette ^a   Steglich, Cordula ^a   Schinzel, Albert ^a   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

NERVE CELL ADHESION MOLECULE L1;

ARTICLE; FEMALE; GENETICS; HUMAN; HYDROCEPHALUS; INFANT; INTRON; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RNA SPLICING; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; HYDROCEPHALUS; INFANT; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEURAL CELL ADHESION MOLECULE L1; PEDIGREE; RNA SPLICING;

MLCS; MLOWN;

EID: 19344362681     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9242     Document Type: Article

References (0)