Nine novel L1 CAM mutations in families with X-linked hydrocephalus

Human Mutation

Volumn 9, Issue 6, 1997, Pages 512-518

  MacFarlane, John R ^a   Du, Jian Sheng ^a   Pepys, Miriam E ^a   Ramsden, Simon ^b   Donnai, Dian ^c   Charlton, Ruth ^c   Garrett, Christine ^d   Tolmie, John ^e   Yates, John R W ^f   Berry, Caroline ^g   Goudie, David ^h   Moncla, Anne ⁱ   Lunt, Peter ^j   Hodgson, Shirley ^g   Jouet, Monique ^a   Kenwrick, Susan ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d NORTHWICK PARK HOSPITAL   (United Kingdom)

^e UNIVERSITY OF GLASGOW   (United Kingdom)

^f ADDENBROOKE S HOSPITAL   (United Kingdom)

^g Div of Med and Molecular Genetics   (United Kingdom)

^h UNIVERSITY OF DUNDEE   (United Kingdom)

ⁱ TIMONE HOSPITAL   (France)

^j BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

more..

Author keywords

Adhesion molecule; Immunoglobulin superfamily; L1 CAM; Mental retardation; SSCP; X linked hydrocephalus

Indexed keywords

NERVE CELL ADHESION MOLECULE;

ARTICLE; CLINICAL ARTICLE; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; HYDROCEPHALUS; MALE; PRIORITY JOURNAL; RNA PROCESSING; SINGLE STRAND CONFORMATION POLYMORPHISM; SPASTIC PARAPLEGIA; X CHROMOSOME LINKED DISORDER;

EID: 16944364894     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:6<512::AID-HUMU3>3.0.CO;2-3     Document Type: Article

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