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Autor:
Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-ahsunthornwattana, Supranee Thongpradit, Kanya Moolsuwan, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom Suktitipat, Natini Jinawath, Duangrurdee Wattanasirichaigoon
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-9 (2021)
Abstract Background Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular in neuronal cells. The disorder is caused by deficiency of β-hexosaminidase B (HEX-B), due to pa
Externí odkaz:
https://doaj.org/article/5793a6bb9459425ea999df2f70d8699e
Autor:
Duangrurdee Wattanasirichaigoon, Natini Jinawath, Tassanee Lerksuthirat, Nithiwat Vatanavicharn, Nusara Satproedprai, Arthaporn Kongkrapan, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Bhoom Suktitipat, Thipwimol Tim-Aroon, Surakameth Mahasirimongkol, Kanya Moolsuwan, Jakris Eu-ahsunthornwattana, Khunton Wichajarn, Supranee Thongpradit, Kullasate Sakpichaisakul
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-9 (2021)
BMC Pediatrics
BMC Pediatrics
Background Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular in neuronal cells. The disorder is caused by deficiency of β-hexosaminidase B (HEX-B), due to pathogenic
Autor:
Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-Ahsunthornwattana, Supranee Thongpradit, Moolsuwan, Kanya, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom Suktitipat, Natini Jinawath, Wattanasirichaigoon, Duangrurdee
Additional file 1: Supplemental Table S1. Primers sequences and conditions for HEXB mutation analysis. Supplemental Table S2. Scores and prediction of pathogenicity for missense variants identified using in silico analysis tools.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a1c0eee4f6212e50a94453a31e8b749
Akademický článek
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Autor:
INTARAJANG, KONGKRAPAN1
Publikováno v:
ICIS Chemical Business. 11/21/2011, Vol. 280 Issue 17, p38-39. 2p.