Frequency of Ret mutations in long- and short-segment Hirschsprung disease

Human Mutation

Volumn 9, Issue 3, 1997, Pages 243-249

  Seri, Marco ^a   Yin, Luo ^a   Barone, Virginia ^a   Bolino, Alessandra ^a   Celli, Iacopo ^a   Bocciardi, Renata ^a   Pasini, Barbara ^a   Ceccherini, Isabella ^a   Lerone, Margherita ^a   Kristoffersson, Ulf ^b   Larsson, Lars T ^b   Casasa, Josep Maria ^c   Cass, Daniel T ^d   Abramowicz, Marc Joel ^e   Vanderwinden, Jean Marie ^f   Kravčenkiene, Ingrida ^g   Baric, Ivo ^h   Silengo, Margherita ⁱ   Martucciello, Giuseppe ^a   Romeo, Giovanni ^a  

^a G GASLINI INSTITUTE   (Italy)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d WESTMEAD HOSPITAL   (Australia)

^e UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^f HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^g Medicinskog Fakulteta u Zagrebu ^*  (Lithuania)

^h UNIVERSITY OF ZAGREB   (Croatia)

ⁱ UNIVERSITY OF TURIN   (Italy)

Author keywords

Hirschsprung disease; mutation detection; RET proto oncogene; SSCP analysis

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONSANGUINITY; DNA DETERMINATION; GENE MUTATION; GENETIC LINKAGE; HIRSCHSPRUNG DISEASE; HOMOZYGOSITY; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; ONCOGENE RET; PRIORITY JOURNAL; PROTO ONCOGENE; SINGLE STRAND CONFORMATION POLYMORPHISM;

DNA MUTATIONAL ANALYSIS; DROSOPHILA PROTEINS; EXONS; HIRSCHSPRUNG DISEASE; HUMANS; MUTATION; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; SEQUENCE DELETION;

EID: 16944365710     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8     Document Type: Article

References (4)

1. Angrist M, Kauffman E, Slaugenhaupt SA, Matise TC, Puffenberger EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE, Sieber W, Chakravarti A (1993) A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nature Genet 4:351-356.
2. Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CHCM, Cass DT, Chakravarti A (1995) Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet 4:821-830.
3. Asai N, Iwashita T, Matsuyama M, Takahashi M (1995) Mechanism of activation of ret proto-oncogene by Multiple Endocrine Neoplasia 2A mutations. Mol Cell Biol 15:1613-1619.
4. Attié T, Pelet A, Sarda P, Eng C, Edery P, Mulligan LM, Ponder BAJ, Munnich A, Lyonnet S (1994) A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease. Hum Mol Genet 3:1439-1440.