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Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N,
Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22.
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Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency
Manco L, Ribeiro ML
Hum Genet. 2009 Apr;125(3):343.
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Novel human pathological mutations. Gene symbol: RHD. Disease: reduced expression (weak D)
Pereira J, Rodrigues MJ, Chabert T, Ribeiro ML.
Hum Genet. 2009 Apr;125(3):341
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Gene symbol: ALAS2
Pereira JC, Barbot J, Ribeiro ML.
Hum Genet 126(2):333 (2009). PMID: 19693999.
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Gene symbol: RHD – IVS6-4 (A>C)
Pereira J, Rodrigues MJ, Chabert T, Ribeiro ML
Hum Genet 125(3):341 (2009). PMID: 19320009.
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Gene symbol: RHD – IVS8+6 (T>C)
Pereira J, Rodrigues MJ, Chabert T, Ribeiro ML
Hum Genet 125(3):341 (2009). PMID: 19320011.
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Gene symbol: RHD
Pereira JC, Martins NP, Ribeiro ML.
Hum Genet 126(2):332 (2009). PMID: 19693998.
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Gene symbol: RHD. Disease: Rhesus blood group variation
Pereira JC, Rodrigues MJ, Chabert T
Hum Genet. 2008 Oct;124(3):306
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Novel human pathological mutations. Gene symbol: PKLR. Disease: Pyruvate kinase
Manco L, Relvas L, Rebelo U, Vidán J, Ribeiro ML.
Human Genetics 124(3):319 (2008)
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Gene symbol: RHD. Disease: Rhesus negative blood group
Pereira J, Couceiro AB, Ribeiro ML
Hum Genet. 123(1):107 (2008). PMID: 18386336
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