Localization of a Gene Responsible for Autosomal Recessive Demyelinating Neuropathy with Focally Folded Myelin Sheaths to Chromosome 11q23 by Homozygosity Mapping and Haplotype Sharing

By Bolino Alessandra  

Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 1051-1054

Oxford University Press

Access to resources Recommend Favorite

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

By Tang Bei-sha   Luo Wei   Xia Kun   Xiao Jian-feng   Jiang Hong   Shen Lu   Tang Jian-guang   Zhao Guo-hua   Cai Fang   Pan Qian   Dai He-ping   Yang Qi-dong   Xia Jia-hui   Evgrafov Oleg  

Human Genetics, Vol. 114, Iss. 6, 2004-05 ,pp. : 527-533

Springer Publishing Company

Access to resources Recommend Favorite

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease

By Bareil C.  

Human Molecular Genetics, Vol. 10, Iss. 4, 2001-02 ,pp. : 415-421

Oxford University Press

Access to resources Recommend Favorite

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

By Lefèvre Caroline  

Human Molecular Genetics, Vol. 13, Iss. 20, 2004-10 ,pp. : 2473-2482

Oxford University Press

Access to resources Recommend Favorite

Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency

By  

Molecular Syndromology, Vol. 6, Iss. 4, 2015-0 ,pp. : 204-206

Karger

Access to resources Recommend Favorite