2019, Number 5
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Cir Cir 2019; 87 (5)
Recurrent achondrogenesis type 1A1 is due to allelic variant of the COL10A1 gene?
Ramírez-García SA, García-Cruz D, Bitar-Alatorre WE, Baltazar-Rodríguez LM, Montaño-Montejano CB, Sánchez-Corona J
Language: Spanish
References: 4
Page: 602-604
PDF size: 103.31 Kb.
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REFERENCES
Ramírez-García SA, García-Cruz D, Cervantes-Aragón I, Bitar-Alatorre WE, Dávalos-Rodríguez IP, Dávalos-Rodríguez NO, et al. New subtype of familial achondrogenesis type IA (Houston-Harris). Cir Cir. 2018;86:89-98.
Warman ML, Abbott M, Apte S, Hefferon T, McIntosh I, Cohn D, et al. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nature Genet. 1993;5:9-82.
Aiger T, Rac T, Niederhagen M, Zaucke F, Schmitz M, Pöhls U, et al. Achondrogenesis type 1A (Houston-Harris): a still-unresolved molecular phenotype. Pediatr Dev Pathol. 2007;10:328-34.
Bateman JF, Freddi S, Nattrass G, Savarirayan R. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. Hum Molec Genet. 2003;12:217-25.
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