Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

PLoS Genetics

Volumn 6, Issue 6, 2010, Pages 1-6

  Sobreira, Nara L M ^a   Cirulli, Elizabeth T ^b   Avramopoulos, Dimitrios ^a   Wohler, Elizabeth ^c   Oswald, Gretchen L ^a   Stevens, Eric L ^a   Ge, Dongliang ^b   Shianna, Kevin V ^b   Smith, Jason P ^b   Maia, Jessica M ^b   Gumbs, Curtis E ^b   Pevsner, Jonathan ^a,c   Thomas, George ^a,c   Valle, David ^a   Hoover Fong, Julie E ^a   Goldstein, David B ^b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE SHP 2; PTPN11 PROTEIN, HUMAN;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; EXOSTOSIS; FAMILY; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC DISORDER; GENETIC LINKAGE; GENOTYPE; HUMAN; HUMAN GENOME; LINKAGE ANALYSIS; MENDELIAN DISEASE; METACHONDROMATOSIS; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; DNA SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; MALE; MUTATION; PEDIGREE;

EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; SEQUENCE ANALYSIS, DNA;

EID: 77954158128     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1000991     Document Type: Article

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