Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease (original) (raw)

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letter

. 1999 Apr;64(4):1216–1221. doi: 10.1086/302329

A Auricchio

, P Griseri

, M L Carpentieri

, N Betsos

, A Staiano

, A Tozzi

, M Priolo

, H Thompson

, R Bocciardi

, G Romeo

, A Ballabio

, I Ceccherini

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PMCID: PMC1377847 PMID: 10090908

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