Open AccessNew allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2
Author(s) -
Е. Л. Дадали,
И. В. Шаркова,
С. С. Никитин,
Ф. А. Коновалов
Publication year - 2016
Publication title -
nervno-myšečnye bolezni
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 3
eISSN - 2413-0443
pISSN - 2222-8721
DOI - 10.17650/2222-8721-2016-6-2-52-57
Subject(s) - hereditary motor and sensory neuropathy , spinal muscular atrophy , allele , compound heterozygosity , phenotype , genetics , medicine , mutation , genetic heterogeneity , gene , atrophy , biology , pathology