TY  - GEN
AU  - Hübner,Christian A
AU  - Utermann,Barbara
AU  - Tinschert,Sigrid
AU  - Krüger,Gabriele
AU  - Ressler,Bernadette
AU  - Steglich,Cordula
AU  - Schinzel,Albert
AU  - Gal,Andreas
TI  - Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing
SN  - 1098-1004
PY  - 2004///0917
KW  - Base Sequence
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - diagnosis
KW  - Humans
KW  - Hydrocephalus
KW  - Infant
KW  - Introns
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Neural Cell Adhesion Molecule L1
KW  - genetics
KW  - Pedigree
KW  - RNA Splicing
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/humu.9242
ER  -