PMID- 10090908
OWN - NLM
STAT- MEDLINE
DCOM- 20000405
LR  - 20220129
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 4
DP  - 1999 Apr
TI  - Double heterozygosity for a RET substitution interfering with splicing and an
      EDNRB missense mutation in Hirschsprung disease.
PG  - 1216-21
FAU - Auricchio, A
AU  - Auricchio A
FAU - Griseri, P
AU  - Griseri P
FAU - Carpentieri, M L
AU  - Carpentieri ML
FAU - Betsos, N
AU  - Betsos N
FAU - Staiano, A
AU  - Staiano A
FAU - Tozzi, A
AU  - Tozzi A
FAU - Priolo, M
AU  - Priolo M
FAU - Thompson, H
AU  - Thompson H
FAU - Bocciardi, R
AU  - Bocciardi R
FAU - Romeo, G
AU  - Romeo G
FAU - Ballabio, A
AU  - Ballabio A
FAU - Ceccherini, I
AU  - Ceccherini I
LA  - eng
GR  - E.0791/TI_/Telethon/Italy
GR  - TGM06S01/TI_/Telethon/Italy
GR  - TGM97000/TI_/Telethon/Italy
PT  - Letter
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Drosophila Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (Receptor, Endothelin B)
RN  - 0 (Receptors, Endothelin)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
RN  - EC 2.7.10.1 (Ret protein, Drosophila)
SB  - IM
MH  - Alternative Splicing/*genetics
MH  - Amino Acid Substitution/genetics
MH  - Base Sequence
MH  - *Drosophila Proteins
MH  - Epistasis, Genetic
MH  - Exons/genetics
MH  - Female
MH  - Heterozygote
MH  - Hirschsprung Disease/*genetics
MH  - Humans
MH  - Male
MH  - Mutation, Missense/*genetics
MH  - Point Mutation/*genetics
MH  - Polymorphism, Single-Stranded Conformational
MH  - Proto-Oncogene Proteins/*genetics
MH  - Proto-Oncogene Proteins c-ret
MH  - RNA, Messenger/analysis/genetics
MH  - Receptor Protein-Tyrosine Kinases/*genetics
MH  - Receptor, Endothelin B
MH  - Receptors, Endothelin/*genetics
PMC - PMC1377847
EDAT- 1999/03/26 03:02
MHDA- 2001/07/04 10:01
CRDT- 1999/03/26 03:02
PHST- 1999/03/26 03:02 [pubmed]
PHST- 2001/07/04 10:01 [medline]
PHST- 1999/03/26 03:02 [entrez]
AID - AJHG980865 [pii]
AID - 10.1086/302329 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Apr;64(4):1216-21. doi: 10.1086/302329.