Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly

Human Molecular Genetics

Volumn 17, Issue 7, 2008, Pages 978-985

  Lettice, Laura A ^a   Hill, Alison E ^a   Devenney, Paul S ^a   Hill, Robert E ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CIS ACTING ELEMENT; SONIC HEDGEHOG PROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CAT; CONGENITAL MALFORMATION; CONTROLLED STUDY; CORRELATION ANALYSIS; DEVELOPMENTAL GENE; DOMESTIC ANIMAL; EMBRYO DEVELOPMENT; FEMALE; GENE CONTROL; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC REGULATION; GENETIC VARIABILITY; HUMAN; LIMB BUD; LIMB DEVELOPMENT; MALE; MOLECULAR MECHANICS; MOUSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; POINT MUTATION; POLYDACTYLY; PRIORITY JOURNAL; SPECIES DIFFERENCE; TISSUE SPECIFICITY; TRANSGENICS;

ANIMALS; BASE SEQUENCE; BODY PATTERNING; CATS; FORELIMB; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, REGULATOR; HEDGEHOG PROTEINS; HUMANS; LAC OPERON; MICE; MUTAGENESIS, SITE-DIRECTED; PEDIGREE; POINT MUTATION; POLYDACTYLY; REGULATORY SEQUENCES, NUCLEIC ACID;

ERINACEIDAE; FELIS CATUS;

EID: 41149157070     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm370     Document Type: Article

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