title: Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.
authors.forename: S
authors.initials: S
authors.lastname: Borrego
authors.forename: R M
authors.initials: RM
authors.lastname: Fernández
authors.forename: H
authors.initials: H
authors.lastname: Dziema
authors.forename: A
authors.initials: A
authors.lastname: Niess
authors.forename: M
authors.initials: M
authors.lastname: López-Alonso
authors.forename: G
authors.initials: G
authors.lastname: Antiñolo
authors.forename: C
authors.initials: C
authors.lastname: Eng
mesh_terms: D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D029721:Drosophila Proteins; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D018095:Germ-Line Mutation; D051097:Glial Cell Line-Derived Neurotrophic Factor Receptors; D006239:Haplotypes; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D017475:Receptors, Nerve Growth Factor / Q000235:genetics
chemical_list: D029721:Drosophila Proteins; C494987:GFRA1 protein, human; C494990:GFRA2 protein, human; C494993:GFRA3 protein, human; C412547:Gfra4 protein, mouse; D051097:Glial Cell Line-Derived Neurotrophic Factor Receptors; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D011518:Proto-Oncogene Proteins; D017475:Receptors, Nerve Growth Factor; D004247:DNA; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila