PMID: 9582336

Legeai-Mallet L, Benoist-Lasselin C, Delezoide AL, Munnich A, Bonaventure J
Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia.
J Biol Chem. 1998 May 22;273(21):13007-14., [PubMed]
Sentences
No. Mutations Sentence Comment
84 ABCC8 p.Arg248Cys
X
ABCC8 p.Arg248Cys 9582336:84:30
status: NEW
view ABCC8 p.Arg248Cys details
 Mutant genotypes included the R248C (8/14), S249C (2/14), J807G (1/14), and Y373C (3/14) mutations (Table I). Login to comment