PMID: 11427982

Uitto J, Pulkkinen L, Ringpfeil F
Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
Trends Mol Med. 2001 Jan;7(1):13-7., [PubMed]
Sentences
No. Mutations Sentence Comment
68 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 11427982:68:45
status: NEW
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A particularly common mutation appears to be R1141X, which has been independently described in families of various ethnic backgrounds10-13,17. Login to comment
75 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 11427982:75:264
status: NEW
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ABCC6 p.Arg1138Gln
X
ABCC6 p.Arg1138Gln 11427982:75:250
status: NEW
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ABCC6 p.Arg1138Trp
X
ABCC6 p.Arg1138Trp 11427982:75:271
status: NEW
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ABCC6 p.Arg1164*
X
ABCC6 p.Arg1164* 11427982:75:257
status: NEW
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ABCC6 p.Arg518Gln
X
ABCC6 p.Arg518Gln 11427982:75:294
status: NEW
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ABCC6 p.Arg1114Pro
X
ABCC6 p.Arg1114Pro 11427982:75:300
status: NEW
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ABCC6 p.Ala455Pro
X
ABCC6 p.Ala455Pro 11427982:75:288
status: NEW
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ABCC6 p.Arg1314Trp
X
ABCC6 p.Arg1314Trp 11427982:75:307
status: NEW
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Thisraisesthequestionoftherelationshipbetweenthe MRP6mutationsandthemanifestationsinPXE affectingtheelasticfibersinvariousorgans.Itmaywell Opinion CR1339C G1345R TRENDS in Molecular Medicine 10 kb NBF2NBF1 0.5 kb Extracellular Intracellular GS 5' 3' R1138Q R1164X R1141X R1138W 2787+1G T A455P R518Q R1114P R1314W (a) (b) (c) EcoRI SmaI SmaI SmaI SacI SacI SmaI N GS 2542delG 1944del22 4220insAGAA 3775delT 3736-1G A Fig. 3. Login to comment
94 ABCC6 p.Arg1138Trp
X
ABCC6 p.Arg1138Trp 11427982:94:91
status: NEW
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Evaluation of the probands revealed that they were both homozygous for a missense mutation R1138W affecting a critical amino-acid residue within an intracellular loop of the third transmembrane segment of MRP6 (Ref. 10). Login to comment