X-linked hydrocephalus: A novel missense mutation in the L1CAM gene

Pediatric Neurology

Volumn 27, Issue 4, 2002, Pages 293-296

  Sztriha, L aszlo ^a   Vos, Yvonne J ^b   Verlind, Edwin ^a   Johansen, Johan ^a   Berg, Bertel ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CELL ADHESION MOLECULE; CYTOSINE; GUANINE; IMMUNOGLOBULIN; PROLINE;

AGENESIS; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CORPUS CALLOSUM; DISEASE COURSE; HUMAN; HYDROCEPHALUS; HYPOPLASIA; MALE; MISSENSE MUTATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN STRUCTURE; THALAMUS; WHITE MATTER; X CHROMOSOME LINKED DISORDER;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; CONSANGUINITY; FEMALE; HUMANS; HYDROCEPHALUS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MUTATION, MISSENSE; NEURAL CELL ADHESION MOLECULE L1; PEDIGREE;

EID: 0036809727     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(02)00440-X     Document Type: Article

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