Mutations in the human sonic hedgehog gene cause holoprosencephaly

Nature Genetics

Volumn 14, Issue 3, 1996, Pages 357-360

  Roessler, Erich ^a   Belloni, Elena ^b   Gaudenz, Karin ^a   Jay, Philippe ^c   Berta, Philippe ^c   Scherer, Stephen W ^b   Tsui, Lap Chee ^b   Muenke, Maximilian ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c Centre National de la Recherche Scientifique   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DROSOPHILA PROTEIN; HEDGEHOG PROTEIN, DROSOPHILA; PRIMER DNA; PROTEIN;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; FEMALE; GENETICS; HETEROZYGOTE; HOLOPROSENCEPHALY; HUMAN; INFANT; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; AMINO ACID SEQUENCE; CONSERVED SEQUENCE; DNA PRIMERS; DROSOPHILA PROTEINS; FEMALE; HETEROZYGOTE; HOLOPROSENCEPHALY; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS;

EID: 0030294408     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1196-357     Document Type: Letter

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