Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a hirschsprung disease patient

Nature Genetics

Volumn 14, Issue 3, 1996, Pages 341-344

  Angrist, Misha ^a   Bolk, Stacey ^a   Halushka, Marc ^a   Lapchak, Paul A ^b   Chakravarti, Aravinda ^a,c  

^a Department of Genetics ^*  (United States)

^b AMGEN INC   (United States)

^c UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DROSOPHILA PROTEIN; GDNF PROTEIN, HUMAN; GDNF PROTEIN, MOUSE; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR RECEPTOR; NERVE GROWTH FACTOR; NERVE PROTEIN; ONCOPROTEIN; PROTEIN RET; PROTEIN TYROSINE KINASE; RET ONCOGENE PROTEIN, DROSOPHILA; RET PROTEIN, MOUSE;

ANIMAL; ARTICLE; BIOLOGICAL MODEL; CHROMOSOME 5; CHROMOSOME MAP; DNA SEQUENCE; FEMALE; GENETIC MARKER; GENETICS; HETEROZYGOTE; HIRSCHSPRUNG DISEASE; HUMAN; MALE; MOLECULAR GENETICS; MOUSE; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY;

ANIMALS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; DROSOPHILA PROTEINS; FEMALE; GENETIC MARKERS; GERM-LINE MUTATION; GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR RECEPTORS; HETEROZYGOTE; HIRSCHSPRUNG DISEASE; HUMANS; MALE; MICE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; NERVE GROWTH FACTORS; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0030292383     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1196-341     Document Type: Letter

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