Mutations in the human sonic hedgehog gene cause holoprosencephaly
- Author
- ROESSLER, E1 ; BELLONI, E2 ; CAUDENZ, K1 ; JAY, P3 ; BERTA, P3 ; SCHERER, S. W2 ; TSUI, L-C2 ; MUENKE, M1
[1] The Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology and Departments of Pediatrics and Genetics, University of Pennsylvania School of Medicine, Philadelphia, 34th & Civic Center Boulevard, Pennsylvania 19104-4399, United States
[2] The Hospital for Sick Children, Department of Genetics, 555 University Avenue, Toronto, Ontario M5G1X8, Canada
[3] Centre de Recherches de Biochimie Macromoléculaire, CNRS ERS 155-INSERM U249, 34033 Montpellier, France - Source
Nature genetics. 1996, Vol 14, Num 3, pp 357-360 ; ref : 37 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Arhinencéphalie Carte génétique Carte physique Chromosome C7 DNA complémentaire Gène Homme Mutation Point cassure Séquence nucléotide Translocation chromosomique Aberration chromosomique Chromosome anormal Encéphale pathologie Face Maladie congénitale Malformation Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Arhinencephaly Genetic mapping Physical map Chromosome C7 Complementary DNA Gene Human Mutation Breakpoint Nucleotide sequence Chromosome translocation Chromosomal aberration Abnormal chromosome Cerebral disorder Face Congenital disease Malformation Central nervous system disease Nervous system diseases
- Keyword (es)
- Arrinoencefalia Mapa genético Mapa físico Cromosoma C7 DNA complementario Gen Hombre Mutación Punto ruptura Secuencia nucleótido Translocación cromosómica Aberración cromosómica Cromosoma anormal Encéfalo patología Cara Enfermedad congénita Malformación Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17D Malformations of the nervous system
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2473423
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/ng1196-357 
https://dx.doi.org/10.1038/ng1196-357
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