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Antonio Rueda Martin

Explore the profile of Antonio Rueda Martin including associated specialties, affiliations and a list of published articles. Areas
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Articles 3
Citations 441
Followers 0
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Recent Articles
1.
Martin A, Williams E, Foulger R, Leigh S, Daugherty L, Niblock O, et al.
Nat Genet . 2019 Nov; 51(11):1560-1565. PMID: 31676867
No abstract available.
2.
Turnbull C, Scott R, Thomas E, Jones L, Murugaesu N, Pretty F, et al.
BMJ . 2018 Apr; 361:k1687. PMID: 29691228
No abstract available.
3.
Taylor R, Arno G, Poulter J, Khan K, Morarji J, Hull S, et al.
JAMA Ophthalmol . 2017 Mar; 135(4):339-347. PMID: 28253385
Importance: Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is not well described but could be important for disease...