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Items: 11


Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.

Chen B, Solis-Villa C, Hakenberg J, Qiao W, Srinivasan RR, Yasuda M, Balwani M, Doheny D, Peter I, Chen R, Desnick RJ.

Hum Mutat. 2016 Nov;37(11):1215-1222. doi: 10.1002/humu.23067. Epub 2016 Sep 5.


Acute intermittent porphyria in Argentina: an update.

Cerbino GN, Gerez EN, Varela LS, Melito VA, Parera VE, Batlle A, Rossetti MV.

Biomed Res Int. 2015;2015:946387. doi: 10.1155/2015/946387. Epub 2015 May 17.


Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

Puy H, Deybach JC, Lamoril J, Robreau AM, Da Silva V, Gouya L, Grandchamp B, Nordmann Y.

Am J Hum Genet. 1997 Jun;60(6):1373-83.


Molecular genetics of disorders of haem biosynthesis.

Elder GH.

J Clin Pathol. 1993 Nov;46(11):977-81. Review. No abstract available.


The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.

Brownlie PD, Lambert R, Louie GV, Jordan PM, Blundell TL, Warren MJ, Cooper JB, Wood SP.

Protein Sci. 1994 Oct;3(10):1644-50. Review.


New nucleotide sequence data on the EMBL File Server.

[No authors listed]

Nucleic Acids Res. 1991 Apr 25;19(8):1967-70. No abstract available.


Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

Delfau MH, Picat C, De Rooij F, Voortman G, Deybach JC, Nordmann Y, Grandchamp B.

Am J Hum Genet. 1991 Aug;49(2):421-8.


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