Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B)

Human Genetics

Volumn 103, Issue 2, 1998, Pages 145-148

  Svensson, Pär Johan ^a,b   Anvret, Maria ^a   Molander, Marie Louise ^b   Nordenskjöld, Agneta ^a,b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b ST GÖRAN S HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN 3; ENDOTHELIN B RECEPTOR; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR;

ARTICLE; CASE REPORT; GENETIC VARIABILITY; HIRSCHSPRUNG DISEASE; HUMAN; INFANT; MALE; MISSENSE MUTATION; ONCOGENE RET; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE;

DNA RESTRICTION ENZYMES; DROSOPHILA PROTEINS; FEMALE; GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR RECEPTORS; HIRSCHSPRUNG DISEASE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, ENDOTHELIN B; RECEPTORS, ENDOTHELIN; VARIATION (GENETICS);

EID: 0031717643     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050797     Document Type: Article

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