Homo sapiens collagen, type XVII, alpha 1, mRNA (cDNA clone IMAGE:3688 - Nucleotide

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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. [J Med Genet. 2024]
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U, Watson CM, Liu L, Smith CEL, Harfoush A, Poulter JA, Nikolopoulos G, Balmer R, Brown CJ, Patel A, et al. J Med Genet. 2024 Mar 21; 61(4):347-355. Epub 2024 Mar 21.
Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer. [BMC Cancer. 2023]
Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer.
Crespo-Bravo M, Thorlacius-Ussing J, Nissen NI, Pedersen RS, Boisen MK, Liljefors M, Johansen AZ, Johansen JS, Karsdal MA, Willumsen N. BMC Cancer. 2023 Oct 6; 23(1):949. Epub 2023 Oct 6.
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry. [Acta Ophthalmol. 2024]
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Turunen JA, Tuisku IS, Repo P, Mörtenhumer S, Kawan S, Järvinen RS, Korsbäck A, Immonen AT, Kivelä TT. Acta Ophthalmol. 2024 May; 102(3):296-305. Epub 2023 Jun 8.

190105[uid] (1)
Taxonomy
SCNN1A isoform 1, partial [Pongo abelii]
SCNN1A isoform 1, partial [Pongo abelii]
gi|1331882081|gb|PNJ30214.1||gnl|WG I|T0127550_1_prot

Protein
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]
gi|194385684|dbj|BAG65217.1|

Protein
SRP321418 (1)
SRA

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Nucleotide