Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

Human Molecular Genetics

Volumn 6, Issue 11, 1997, Pages 1847-1853

  Roessler, Erich ^a,c   Belloni, Elena ^b   Gaudenz, Karin ^a   Vargas, Fernando ^a,c   Scherer, Stephen W ^b   Tsui, Lap Chee ^b   Muenke, Maximilian ^a,c  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; SONIC HEDGEHOG PROTEIN;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN DEVELOPMENT; CARBOXY TERMINAL SEQUENCE; EXON; GENE MUTATION; HOLOPROSENCEPHALY; HUMAN; PRIORITY JOURNAL;

ALANINE; AMINO ACID SEQUENCE; ANIMALS; CELL LINE, TRANSFORMED; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, DOMINANT; GLUTAMIC ACID; GLYCINE; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PROTEINS; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SERINE; THREONINE; TRANS-ACTIVATORS; VALINE;

EID: 0030729082     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.11.1847     Document Type: Article

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