ABCMdb

PMID: 9302269

Delezoide AL, Lasselin-Benoist C, Legeai-Mallet L, Brice P, Senee V, Yayon A, Munnich A, Vekemans M, Bonaventure J
Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.
Hum Mol Genet. 1997 Oct;6(11):1899-906., [PubMed]

Sentences

No. Mutations Sentence Comment

63 ABCC8 p.Arg248Cys ABCC8 p.Arg248Cys ABCC8 p.Arg248Cys ABCC8 p.Arg248Cys ABCC8 p.Arg248Cys 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 ? Login to comment 74 ABCC8 p.Arg248Cys Mutant genotypes included the R248C (5/18), S249C (2/18), Y373C (4/18) and stop codon mutations (3/18) (Table 1). Login to comment