Five novel mutations in the L1 CAM gene in families with X linked hydrocephalus

Journal of Medical Genetics

Volumn 33, Issue 2, 1996, Pages 103-106

  Gu, Su Min ^a,f   Orth, Ulrike ^b   Veske, Andres ^b,g   Enders, Herbert ^c   Klünder, Kathrin ^d   Schlösser, Manfred ^e   Engel, Wolfgang ^e   Schwinger, Eberhard ^a   Gal, Andreas ^a,b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^d KLINIKUM ERNST VON BERGMANN   (Germany)

^e UNIVERSITY OF GÖTTINGEN   (Germany)

^f ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^g UNIVERSITY OF TARTU   (Estonia)

Author keywords

L1 CAM gene; X linked hydrocephalus

Indexed keywords

IMMUNOGLOBULIN G; NERVE CELL ADHESION MOLECULE;

ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; HYDROCEPHALUS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN STRUCTURE; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME RECESSIVE DISORDER; X LINKED HYDROCEPHALUS;

EID: 0030063438     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.2.103     Document Type: Article

References (16)

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