ABCC6 p.Trp1324*
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PMID: 16410789
[PubMed]
Ringpfeil F et al: "Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity."
No.
Sentence
Comment
30
In addition, a previously unpublished nonsense mutation W1324X was F568S/R1141X W1324X/R1141X Family 4 R1138W/R1138W R1138W/R1138W -/R1138W R1138W/- R1138W/- R1138W/- Family 6 R391G/R1138W R391G/R1138W Family 7 Family 2 Del23-29/W218C R391G/W218C Del23-29/W218C Del23-29/R391G W218C/- Del23-29/- Del23-29/- ?
X
ABCC6 p.Trp1324* 16410789:30:56
status: NEWX
ABCC6 p.Trp1324* 16410789:30:80
status: NEW48 In Family 4, the two affected individuals, a father and a son, were compound heterozygotes, both for R1141X mutation in one allele, in combination with either F568S (father) or W1324X (son).
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ABCC6 p.Trp1324* 16410789:48:177
status: NEW