ABCD1 p.Glu291Leu
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Sentence
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299
PEROX~SOMALABC TRANSPORTERS ScPxal p ScPxa2p HsPMP70 HsALDP MmALDR CeC44B7.8 HsTAP1 HsMDR1 MmMDR2 HsMDR3 DmMDR4 D L PA 292-306 320-334 275-289 289-303 252-566 283-397 376-390 280-294 279-293 282-296 284-298 f E291DX-ALD E291L E291A FIG.3.
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ABCD1 p.Glu291Leu 9711597:299:221
status: NEW308 Missense mutations altering the corresponding glutamic acid residue of ALDP (E291) have been described in two unrelated adrenoleukodystrophy patients (E291D, E291L).
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ABCD1 p.Glu291Leu 9711597:308:158
status: NEW