Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: Identification of loss-of-function mutations in the GPC3 gene

Human Molecular Genetics

Volumn 9, Issue 9, 2000, Pages 1321-1328

  Veugelers, Mark ^a   De Cat, Bart ^a   Muyldermans, Sin Ya ^a   Reekmans, Gunter ^a   Delande, Nathalie ^a   Frints, Suzanne ^a   Legius, Eric ^b   Fryns, Jean Pierre ^b   Schrander Stumpel, Connie ^c   Weidle, Bernhard ^d   Magdalena, Neiva ^e   David, Guido ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^d TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^e FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GLYPICAN; HEPARAN SULFATE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FRAMESHIFT MUTATION; GENE CLUSTER; GENE MUTATION; GIGANTISM; HUMAN; HUMAN CELL; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PERLMAN SYNDROME; POINT MUTATION; PRIORITY JOURNAL; PROTEIN PROCESSING; SIMPSON GOLABI BEHMEL SYNDROME;

ANIMALIA;

EID: 0034701943     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.9.1321     Document Type: Article

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