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PMID: 8773611
Korenke GC, Fuchs S, Krasemann E, Doerr HG, Wilichowski E, Hunneman DH, Hanefeld F
Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype.
Ann Neurol. 1996 Aug;40(2):254-7.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
85
ABCD1 p.Ser606Leu
X
ABCD1 p.Ser606Leu 8773611:85:4
status:
NEW
view ABCD1 p.Ser606Leu details
The
S606L
mutation reported here has already been described in a patient with ALD and Addison's disease [l11.
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