The Alport Syndrome COL4A5 variant database

Human Mutation

Volumn 31, Issue 8, 2010, Pages

  Crockett, David K ^a   Pont Kingdon, Genevieve ^a   Gedge, Frederick ^a   Sumner, Kelli ^a   Seamons, Ryan ^a   Lyon, Elaine ^a  

^a ARUP LABORATORIES   (United States)

Author keywords

ALPORT syndrome; COL4A5; Gene variant; Mutation database; Phenotype

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA CHAIN 5; COMPLEMENTARY DNA; UNCLASSIFIED DRUG; COL4A5 PROTEIN, HUMAN;

ALPORT SYNDROME; COMPUTER PROGRAM; GENE MUTATION; GENE SEQUENCE; GENETIC DATABASE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; PUBLICATION; SHORT SURVEY; ACCESS TO INFORMATION; GENETICS; MUTATION; NEPHRITIS; NUCLEOTIDE SEQUENCE; SOFTWARE;

ACCESS TO INFORMATION; BASE SEQUENCE; COLLAGEN TYPE IV; DATABASES, GENETIC; HUMANS; MUTATION; NEPHRITIS, HEREDITARY; SOFTWARE;

EID: 77955079810     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21312     Document Type: Short Survey

References (12)

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