Prenatal diagnosis of congenital myotonic dystrophy in two Japanese families : direct mutation analysis by a non-radioisotope PCR method and haplotype analysis with flanking DNA markers
- Author
- NANBA, E1 ; ITO, T; KADOWAKI, K; MAKIO, A; NAKAGAWA, M; YAMAMOTO, T1 ; YUASA, I; TAKESHITA, K1
[1] Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1 Nishimachi, Yonago 683, Japan - Source
Brain & development (Tokyo. 1979). 1996, Vol 18, Num 2, pp 122-126 ; ref : 25 ref
- CODEN
- NTHAA7
- ISSN
- 0387-7604
- Scientific domain
- Neurology; Psychophysiology
- Publisher
- Elsevier Science, Amsterdam
- Publication country
- Netherlands
- Document type
- Article
- Language
- English
- Keyword (fr)
- Congénital Diagnostic Dystrophie myotonique Etude familiale Génétique Haplotype Homme Japonais Mutation Prénatal Réaction chaîne polymérase Maladie héréditaire Myotonie Neuromusculaire pathologie Système nerveux pathologie
- Keyword (en)
- Congenital Diagnosis Myotonic dystrophy Family study Genetics Haplotype Human Japanese Mutation Prenatal Polymerase chain reaction Genetic disease Myotonia Neuromuscular diseases Nervous system diseases
- Keyword (es)
- Congénito Diagnóstico Distrofia miotónica Estudio familiar Genética Haplotipo Hombre Japonés Mutación Prenatal Reacción cadena polimerasa Enfermedad hereditaria Miotonía Neuromuscular patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 3075601
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
10.1016/0387-7604(95)00111-5 
https://dx.doi.org/10.1016/0387-7604(95)00111-5
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