Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B.
Drera
B
B
Zoppi
N
N
Barlati
S
S
Colombi
M
M
D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D019210:Troponin I / Q000235:genetics*
D018389:Codon, Nonsense; D019210:Troponin I