Abstract | PURPOSE: METHODS: Genomic DNA from 16 patients with slow-transit constipation and four relatives with Hirschsprung's disease was analyzed using single strand and heteroduplex conformation polymorphism analysis at two conditions and by direct DNA sequencing using the fluorescent dideoxy terminator method. RESULTS: Although common sequence polymorphisms were demonstrated with a frequency comparable with published data, no published or new mutation was seen in any of the exons of RET or glial cell-derived neurotrophic factor. CONCLUSIONS:
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Authors | C H Knowles, S A Gayther, M Scott, S Ramus, P Anand, N S Williams, B A Ponder |
Journal | Diseases of the colon and rectum
(Dis Colon Rectum)
Vol. 43
Issue 6
Pg. 851-7
(Jun 2000)
ISSN: 0012-3706 [Print] United States |
PMID | 10859088
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- GDNF protein, human
- Glial Cell Line-Derived Neurotrophic Factor
- MAS1 protein, human
- Nerve Growth Factors
- Nerve Tissue Proteins
- Nucleic Acid Heteroduplexes
- Proto-Oncogene Mas
- Proto-Oncogene Proteins
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Topics |
- Adult
- Constipation
(genetics)
- Female
- Gastrointestinal Transit
- Germ-Line Mutation
- Glial Cell Line-Derived Neurotrophic Factor
- Humans
- Male
- Middle Aged
- Nerve Growth Factors
(genetics)
- Nerve Tissue Proteins
(genetics)
- Nucleic Acid Heteroduplexes
- Polymorphism, Single-Stranded Conformational
- Proto-Oncogene Mas
- Proto-Oncogene Proteins
(genetics)
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