论文信息 - De-novo mutation in hereditary motor and sensory neuropathy type I - 字舞流文

De-novo mutation in hereditary motor and sensory neuropathy type I

F. Baas | C. Broeckhoven | L. Valentijn | M. Visser | P. Bolhuis | E. Janssen | J. Martin | J. Hoogendijk | J. Martin | G. W. Hensels | A. Gabrééls-Festen | A. Gabreëls-Festen | F. Gabreèls | P. D. onghe | A. Gabreels-Festen

[1] A. Emery. Population frequencies of inherited neuromuscular diseases—A world survey , 1991, Neuromuscular Disorders.

[2] F. Baas,et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a) , 1991, Neuromuscular Disorders.

[3] Aravinda Chakravarti,et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A , 1991, Cell.

[4] J M Lalouel,et al. Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). , 1990, American journal of human genetics.

[5] M. Wapenaar,et al. P9 (DXYS75) detects a VNTR-type RFLP in the pseudoautosomal region. , 1990, Nucleic acids research.

[6] S. Halvorsen,et al. Child neuromuscular disease in Southern Norway: Prevalence, age and distribution of diagnosis with special reference to “non‐Duchenne muscular dystrophy” , 1988, Clinical genetics.

[7] P. Dyck. Detection, characterization, and staging of polyneuropathy: Assessed in diabetics , 1988, Muscle & nerve.

[8] A. Harding,et al. Genetic aspects of hereditary motor and sensory neuropathy (types I and II) , 1980, Journal of medical genetics.