ABCD1 p.Tyr212*
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PMID: 10480364
[PubMed]
Wichers M et al: "X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset."
No.
Sentence
Comment
40
This patient harbours two mutations (Q178 E and Y212X) in his ALD gene; these have also been solely observed in two further cases affected with AMN (Braun et al. 1995).
X
ABCD1 p.Tyr212* 10480364:40:48
status: NEW