RecName: Full=Carbohydrate sulfotransferase 14; AltName: Full=Dermatan - Protein

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Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). [J Med Genet. 2022]
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, et al. J Med Genet. 2022 Sep; 59(9):865-877. Epub 2021 Nov 23.
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. [Mol Genet Genomic Med. 2020]
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
Lautrup CK, Teik KW, Unzaki A, Mizumoto S, Syx D, Sin HH, Nielsen IK, Markholt S, Yamada S, Malfait F, et al. Mol Genet Genomic Med. 2020 May; 8(5):e1197. Epub 2020 Mar 4.
Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14). [Am J Med Genet A. 2018]
Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14).
Uehara M, Kosho T, Yamamoto N, Takahashi HE, Shimakura T, Nakayama J, Kato H, Takahashi J. Am J Med Genet A. 2018 Nov; 176(11):2331-2341. Epub 2018 Sep 8.

RefSeq genomic sequence
See the genomic reference sequence for the CHST14 gene (NG_017074.1).
RefSeq protein
See the reference protein sequence for carbohydrate sulfotransferase 14 (NP_569735.1).

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Q8NCH0 [Domain Mapping of Disease Mut...]
Q8NCH0
Domain Mapping of Disease Mutations
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RecName: Full=Carbohydrate sulfotransferase 14; AltName: Full=Dermatan 4-sulfotr...
RecName: Full=Carbohydrate sulfotransferase 14; AltName: Full=Dermatan 4-sulfotransferase 1; Short=D4ST-1; Short=hD4ST1
gi|61211839|sp|Q8NCH0.2|CHSTE_HUMAN

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