Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations

Matrix Biology

Volumn 57-58, Issue , 2017, Pages 29-44

  Jeanne, Marion ^a   Gould, Douglas B ^b  

^a GENENTECH INC   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA 1; COLLAGEN TYPE 4 ALPHA 2; GLYCINE; UNCLASSIFIED DRUG; COL4A1 PROTEIN, HUMAN; COL4A2 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; DISEASE SEVERITY; GENE FREQUENCY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVIEW; ANIMAL; BASEMENT MEMBRANE; CEREBROVASCULAR DISEASE; CHEMISTRY; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDY; GENETICS; KIDNEY DISEASE; METABOLISM; MOUSE; MUSCLE DISEASE; MUTATION; PATHOLOGY; PROTEIN DOMAIN; SIGNAL TRANSDUCTION;

AMINO ACID SUBSTITUTION; ANIMALS; BASEMENT MEMBRANE; CEREBROVASCULAR DISORDERS; COLLAGEN TYPE IV; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; GLYCINE; HUMANS; KIDNEY DISEASES; MICE; MUSCULAR DISEASES; MUTATION; PROTEIN DOMAINS; SIGNAL TRANSDUCTION;

EID: 85008205011     PISSN: 0945053X     EISSN: 15691802     Source Type: Journal    
DOI: 10.1016/j.matbio.2016.10.003     Document Type: Review

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