Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease [3]

American Journal of Human Genetics

Volumn 64, Issue 4, 1999, Pages 1216-1221

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

^a G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DEVELOPMENTAL DISORDER; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; LETTER; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033361767     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302329     Document Type: Letter

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