heparan-alpha-glucosaminide N-acetyltransferase isoform X1 [Homo sapie - Protein

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Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy. [Ophthalmic Genet. 2024]
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
da Palma MM, Marra M, Igelman AD, Ku CA, Burr A, Andersen K, Everett LA, Porto FBO, Sallum JMF, Yang P, et al. Ophthalmic Genet. 2024 Apr; 45(2):167-174. Epub 2023 Aug 17.
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. [Metab Brain Dis. 2023]
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
Liang Y, Gao X, Lu D, Zhang H, Zhang. Metab Brain Dis. 2023 Aug; 38(6):2013-2023. Epub 2023 Apr 4.
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. [Am J Med Genet C Semin Med Gen...]
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER, Daich Varela M, Robson AG, Pierpoint K, Ba-Abbad R, Nutan S, Zein WM, Ullah E, Huryn LA, Tuupanen S, et al. Am J Med Genet C Semin Med Genet. 2020 Sep; 184(3):631-643. Epub 2020 Aug 7.

RefSeq genomic sequence
See the genomic reference sequence for the HGSNAT gene (NG_009552.1).
RefSeq mRNA
See reference mRNA sequence for the HGSNAT gene (XM_054359797.1).

heparan-alpha-glucosaminide N-acetyltransferase isoform X1 [Homo sapiens]
heparan-alpha-glucosaminide N-acetyltransferase isoform X1 [Homo sapiens]
gi|2462617845|ref|XP_054215772.1|

Protein
heparan-alpha-glucosaminide N-acetyltransferase isoform X3 [Homo sapiens]
heparan-alpha-glucosaminide N-acetyltransferase isoform X3 [Homo sapiens]
gi|530387589|ref|XP_005273469.1|

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