ABCD1 p.Ser98Trp
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PMID: 10980309
[PubMed]
Ohi T et al: "Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation."
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The second, C(679)G results in Ser(98)Trp substitution in the first transmembrane loop in childhood onset cerebral ALD family.
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ABCD1 p.Ser98Trp 10980309:2:31
status: NEW114 Currently he ALD gene in this boy revealed a single nucleotide substitu- remains in chronic vegetative state and is being adminis- tion at position 679, replacing C with G and changing tered anticonvulsant medication through a gastric feeding serine to tryptophan at amino acid position 98 of the tube.
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ABCD1 p.Ser98Trp 10980309:114:243
status: NEW116 This mutation Ser(98)Trp was also present in his mother and younger brother.
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ABCD1 p.Ser98Trp 10980309:116:14
status: NEW168 The first event in the cerebrum of ALD patients could be mutation in the COCALD family was a Ser(98)Trp myelin breakdown and oligodendroglial death due to substitution and was located in the first transmembrane apoptosis by ALD gene mutation [30] or VLCFA accumu- loop.
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ABCD1 p.Ser98Trp 10980309:168:93
status: NEW167 The first event in the cerebrum of ALD patients could be mutation in the COCALD family was a Ser(98)Trp myelin breakdown and oligodendroglial death due to substitution and was located in the first transmembrane apoptosis by ALD gene mutation [30] or VLCFA accumu- loop.
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ABCD1 p.Ser98Trp 10980309:167:93
status: NEW