Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Nature Genetics

Volumn 24, Issue 3, 2000, Pages 283-286

  Ruiz Perez, Victor L ^a   Ide, Susan E ^b,e   Strom, Tim M ^c   Lorenz, Bettina ^c   Wilson, David ^a   Woods, Kathryn ^a   King, Lynn ^d   Francomano, Clair ^d   Freisinger, Peter ^f   Spranger, Stephanie ^g   Marino, Bruno ^h   Dallapiccola, Bruno ⁱ   Wright, Michael ^a   Meitinger, Thomas ^c   Polymeropoulos, Mihael H ^b   Goodship, Judith ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NOVARTIS PHARMA AG   (Switzerland)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^e GEORGE WASHINGTON UNIVERSITY   (United States)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g UNIVERSITY OF BREMEN   (Germany)

^h BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

ⁱ SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; DYSOSTOSIS; ELLIS VAN CREVELD SYNDROME; EMBRYO; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ORGANIZATION; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BRAZIL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; DWARFISM; DYSOSTOSES; ELLIS-VAN CREVELD SYNDROME; ETHNIC GROUPS; EXPRESSED SEQUENCE TAGS; FEMALE; FINGERS; GENES; GENES, DOMINANT; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; HUMANS; INCISOR; LEUCINE ZIPPERS; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; PEDIGREE; PENNSYLVANIA; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; RECOMBINATION, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SYNDROME; TOOTH ABNORMALITIES;

EID: 0034104297     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/73508     Document Type: Article

References (15)

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