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Mutations of the RET-GDNF signaling pathway in Ondine's curse.
Am J Hum Genet. 1998 Mar;62(3):715-7. doi: 10.1086/301759.
Am J Hum Genet. 1998.
PMID: 9497256
Free PMC article.
No abstract available.
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S.
Amiel J, et al.
Nat Genet. 2003 Apr;33(4):459-61. doi: 10.1038/ng1130. Epub 2003 Mar 17.
Nat Genet. 2003.
PMID: 12640453
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