ABCG5 p.Glu77*
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PMID: 16029460
[PubMed]
Rees DC et al: "Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia."
No.
Sentence
Comment
127
Families A and B showed mutations in ABCG5: family A showed E77X (with affected members homozygous), while family B showed E146X and IVS11+3insT.
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ABCG5 p.Glu77* 16029460:127:60
status: VERIFIED174 Family Sitosterol level (lmol/l) ABCG5 ABCG8 A E77X (229G>T) A-I-2 44 m/n A-II-1 1471 m/m A-II-2 17 n/n A-II-3 57 n/n A-II-4 970 m/m A-II-5 625 m/m A-II-9 508 m/m B IVS11+3insT R50C (148C>T) E146X (436G>T), M622V (1864A>G) B-I-1 77 n/n m/n B-I-2 42 m/n n/n B-II-1 2230 m/n m/n B-II-2 2350 m/n m/n B-II-3 137 n/n m/n C Q604E (1810C>G) Q271X (811C>T) IV9-3insT IV8-1G/A C54Y (161G>A) C-I-1 114 m/n n/n m/n m/n C-I-2 29 m/m m/n n/n m/m C-II-1 2100 m/n m/n m/n m/n C-II-2 2580 m/n m/n m/n m/n D W361X (1083G>A) D-I-1 22 m/n D-II-1 715 m/m E W361X (1083G>A) E-I-1 23 m/n E-II-1 1844 m/m E-II-2 21 n/n Mutations are shown in bold and large font.
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ABCG5 p.Glu77* 16029460:174:47
status: VERIFIED
No.
Sentence
Comment
25
This family had mutations in ABCG5 at E77X with affected members being homozygous.
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ABCG5 p.Glu77* 17785700:25:38
status: VERIFIED85 All affected individuals in our family have short stature; the family has mutations in ABCG5 at E77X, whereas the most common mutation described is in ABCG8 (4, 6) and it is possible that differences in gene mutations could account for the adrenal abnormalities, but this remains speculative.
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ABCG5 p.Glu77* 17785700:85:96
status: VERIFIED