Population history and infrequent mutations: How old is a rare mutation? GUCY2D as a worked example

European Journal of Human Genetics

Volumn 16, Issue 1, 2008, Pages 115-123

  Hanein, Sylvain ^a   Perrault, Isabelle ^a   Gerber, Sylvie ^a   Delphin, Nathalie ^a   Benezra, David ^b   Shalev, Stavit ^c   Carmi, Rivka ^d   Feingold, Josué ^a   Dufier, Jean Louis ^a   Munnich, Arnold ^a   Kaplan, Josseline ^a   Rozet, Jean Michel ^a   Jeanpierre, Marc ^e,f,g  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^d BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^e INSTITUT COCHIN   (France)

^f INSERM   (France)

^g U567 ^*  (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN GUCY2D; UNCLASSIFIED DRUG;

ACCURACY; ARTICLE; BAYES THEOREM; FAMILY STUDY; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENEALOGY; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MATHEMATICAL ANALYSIS; MATHEMATICAL COMPUTING; MATHEMATICAL MODEL; MOSAICISM; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHYLOGENETIC TREE; POPULATION GENETICS; PRIORITY JOURNAL; PROBABILITY;

AFRICA, NORTHERN; BAYES THEOREM; DNA PRIMERS; FEMALE; FOUNDER EFFECT; FRANCE; GENETICS, POPULATION; GUANYLATE CYCLASE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MODELS, GENETIC; MODELS, STATISTICAL; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; POLYMORPHISM, SINGLE NUCLEOTIDE; PORTUGAL; RECEPTORS, CELL SURFACE; SEQUENCE DELETION; TIME FACTORS;

EID: 37249013794     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201905     Document Type: Article

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