Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3

Human Genetics

Volumn 121, Issue 5, 2007, Pages 591-599

  Consugar, Mark B ^a   Kubly, Vickie J ^a   Lager, Donna J ^a   Hommerding, Cynthia J ^a   Wong, Wai Chong ^a   Bakker, Egbert ^b   Gattone, Vincent H ^c   Torres, Vicente E ^a   Breuning, Martijn H ^b   Harris, Peter C ^a  

^a Mayo Clinic   (United States)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Genotype phenotypecorrelations; Meckel syndrome; MKS1; MKS3; Moleculardiagnostics

Indexed keywords

MECKELIN 1; MECKELIN 3; MEMBRANE PROTEIN; RNA; UNCLASSIFIED DRUG;

ARTICLE; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; FEMALE; FETUS; FIBROBLAST; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY PARENCHYMA; LINKAGE ANALYSIS; LIVER PARENCHYMA; MALE; MECKEL SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NETHERLANDS; NONSENSE MUTATION; POLYDACTYLY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; UNITED STATES;

ABNORMALITIES, MULTIPLE; CENTRAL NERVOUS SYSTEM DISEASES; GENETIC HETEROGENEITY; KIDNEY; LIVER; MEMBRANE PROTEINS; PROTEINS; SYNDROME;

EID: 34248223631     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-007-0341-3     Document Type: Article

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