ABCD1 p.Tyr281His
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PMID: 9242200
[PubMed]
Korenke GC et al: "Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings."
No.
Sentence
Comment
120
Sixteen of these mutations have been published before (11, 21); the remaining 12 mutations comprise nine missense mutations (A141T, Y281H, R389H, G512S, P543L, R554H, Y559H, R617H, R679R), two frame-shift mutations (del 740, del 2132) and one splice site mutation (ins 8 bp 2252).
X
ABCD1 p.Tyr281His 9242200:120:132
status: NEW