ABCD1 p.Pro143Leu
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PMID: 10369742
[PubMed]
Perusi C et al: "Two novel missense mutations causing adrenoleukodystrophy in Italian patients."
No.
Sentence
Comment
40
Since mutations C813T and C709T do not alter normally occurring restriction sites, we designed (Pro143Leu) (Fig. 1a).
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ABCD1 p.Pro143Leu 10369742:40:96
status: NEW41 The mutation was confirmed Missense mutations in the ALD gene gene have been suggested to be around 8% or more.12,13 The mutation C813T results in a Pro 143 Ser substitution in the third putative transmembrane domain.
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ABCD1 p.Pro143Leu 10369742:41:96
status: NEW