Mutations of the RET-GDNF signaling pathway in Ondine's curse.
Amiel
J
J
Salomon
R
R
Attié
T
T
Pelet
A
A
Trang
H
H
Mokhtari
M
M
Gaultier
C
C
Munnich
A
A
Lyonnet
S
S
D029721:Drosophila Proteins; D016232:Endothelins / Q000235:genetics / Q000378:metabolism; D005260:Female; D016368:Frameshift Mutation; D051100:Glial Cell Line-Derived Neurotrophic Factor; D051097:Glial Cell Line-Derived Neurotrophic Factor Receptors; D006579:Heterozygote; D006801:Humans; D008297:Male; D009414:Nerve Growth Factors / Q000235:genetics / Q000378:metabolism*; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism*; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics / Q000378:metabolism*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics / Q000378:metabolism*; D015398:Signal Transduction; D012891:Sleep Apnea Syndromes / Q000235:genetics / Q000378:metabolism*
D029721:Drosophila Proteins; D016232:Endothelins; C495039:GDNF protein, human; D051100:Glial Cell Line-Derived Neurotrophic Factor; D051097:Glial Cell Line-Derived Neurotrophic Factor Receptors; D009414:Nerve Growth Factors; D009419:Nerve Tissue Proteins; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila