Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

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Auricchio A, Griseri P, Carpentieri ML, Betsos N, Staiano A, Tozzi A, Priolo M, Thompson H, Bocciardi R, Romeo G, Ballabio A, Ceccherini I

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

Am J Hum Genet. 1999 Apr;64(4):1216-21.

PubMed ID
10090908 [ View in PubMed
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Polypeptides
NameUniProt ID
Proto-oncogene tyrosine-protein kinase receptor RetP07949Details