Синдром протяженной делеции при тяжелой форме мукополисахаридоза II типа
https://doi.org/ 10.25557/2073-7998.2019.01.45-50
Аннотация
Об авторах
Н. А. ПоляковаРоссия
Е. Ю. Воскобоева
Россия
И. В. Канивец
Россия
С. А. Коростелев
Россия
В. С. Какаулина
Россия
Н. Л. Печатникова
Россия
Список литературы
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17. Probst FJ, Roeder ER, Enciso VB, et al. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007;143A:1358-1365.
18. Honda S, Hayashi S, Kato M, et al. Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene. Am J Med Genet A. 2007;143:687-693.
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Рецензия
Для цитирования:
Полякова Н.А., Воскобоева Е.Ю., Канивец И.В., Коростелев С.А., Какаулина В.С., Печатникова Н.Л. Синдром протяженной делеции при тяжелой форме мукополисахаридоза II типа. Медицинская генетика. 2019;18(1):45-50. https://doi.org/ 10.25557/2073-7998.2019.01.45-50
For citation:
Polyakova N.A., Voskoboeva E.Yu., Kanivets I.V., Korostelev S.A., Kakaulina V.S., Pechatnikova N.L. Contiguous gene syndrome in severe case of mucopolysaccharidosis type II. Medical Genetics. 2019;18(1):45-50. (In Russ.) https://doi.org/ 10.25557/2073-7998.2019.01.45-50