Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome
- Autor
- NAKASHIMA, Eiji1 ; MABUCHI, Akihiko1 ; MAKITA, Yoshio1 ; MASUNO, Mitsuo1 ; OHASHI, Hirofumi1 ; NISHIMURA, Gen1 ; IKEGAWA, Shiro1
[1] Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, c/o Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, 108-8639 Minato-ku, Tokyo, Japan - Fuente
Human genetics. 2004, Vol 114, Num 4, pp 345-348, 4 p ; ref : 7 ref
- CODEN
- HUGEDQ
- ISSN
- 0340-6717
- Campo Científico
- Biotechnology; Genetics
- Editor
- Springer, Berlin
/
Springer, Heidelberg
/
Springer, New York, NY
- País de la publicación
- Germany
- Tipo de documento
- Article
- Idioma
- English
- Palabra clave (fr)
- Chondrodysplasie métaphysaire Conversion génique Japonais Malade Mutation Syndrome complexe Gène SDBS Shwachman Diamond syndrome Maladie héréditaire Moelle osseuse pathologie Ostéochondrodysplasie Pancréas pathologie Système ostéoarticulaire pathologie
- Palabra clave (in)
- Metaphyseal chondrodysplasia Gene conversion Japanese Patient Mutation Complex syndrome Genetic disease Bone marrow disease Osteochondrodysplasia Pancreatic disease Diseases of the osteoarticular system
- Palabra clave (es)
- Condrodisplasia metafisiaria Conversión génica Japonés Enfermo Mutación Síndrome complejo Enfermedad hereditaria Médula ósea patología Osteocondrodisplasia Páncreas patología Sistema osteoarticular patología
- Clasificación
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Disciplina
- Medical genetics
- Procedencia
- Inist-CNRS
- Base de datos
- PASCAL
- Identificador INIST
- 15497286
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
10.1007/s00439-004-1081-2 
https://dx.doi.org/10.1007/s00439-004-1081-2
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