ABCC8 p.Arg248Cys
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PMID: 9582336
[PubMed]
Legeai-Mallet L et al: "Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia."
No.
Sentence
Comment
84
Mutant genotypes included the R248C (8/14), S249C (2/14), J807G (1/14), and Y373C (3/14) mutations (Table I).
X
ABCC8 p.Arg248Cys 9582336:84:30
status: NEW
PMID: 9302269
[PubMed]
Delezoide AL et al: "Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses."
No.
Sentence
Comment
63
Gestational age (weeks) FGFR 3 mutation In situ hybridization Immunohistochemistry demineralized non demineralized 1 17 Y373C - + - 2 26 J807G - + - 3 27 R248C - + - 4 23 S249C - + - 5 21 J807C - + - 6 19 Y373C + - + 7 27 R248C + + + 8 26 R248C + + + 9 19 R248C + + + 10 24 S249C + + + 11 16 J807R - - + 12 24 Y373C - + - 13 27 n.a. - + - 14 21 n.a. - + - 15 23 n.a. - + - 16 24 Y373C - + - 17 25 R248C - + - 18 21 ?
X
ABCC8 p.Arg248Cys 9302269:63:154
status: NEWX
ABCC8 p.Arg248Cys 9302269:63:222
status: NEWX
ABCC8 p.Arg248Cys 9302269:63:239
status: NEWX
ABCC8 p.Arg248Cys 9302269:63:256
status: NEWX
ABCC8 p.Arg248Cys 9302269:63:397
status: NEW74 Mutant genotypes included the R248C (5/18), S249C (2/18), Y373C (4/18) and stop codon mutations (3/18) (Table 1).
X
ABCC8 p.Arg248Cys 9302269:74:30
status: NEW