id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_dm7vtnvr5vbohgh6cw2szp6gnu	Alberto Auricchio	Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease	1999	6	.pdf	application/pdf	4618	376	66	RET and EDNRB Mutations in 50 Male Patients with Isolated HSCR a For the RET, EDNRB, and EDN3 genes, primer sequences and PCR-SSCP conditions have with RET mutations, have been detected in a few patients (Angrist et al. Similarly, a missense mutation in the neurturin (NTN) gene, a component of a second RET binding complex including the NTN receptor (also known Table 1 shows two heterozygous incompletely penetrant EDNRB mutations (S305N and N378I) we recently described in two patients with isolated short-segment HSCR disease, inherited from healthy parents Figure 3 In vitro analysis of the RET exons 10 and 11 splicing products from both the normal and the I647I mutated alleles (see text (1996) Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease Eng C, Mulligan LM (1997) Mutations of the RET protooncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease.	./cache/work_dm7vtnvr5vbohgh6cw2szp6gnu.pdf	./txt/work_dm7vtnvr5vbohgh6cw2szp6gnu.txt