Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations

Human molecular genetics

Volumn 23, Issue 7, 2014, Pages 1709-1722

  Kuo, Debbie S ^a   Labelle Dumais, Cassandre ^a   Mao, Mao ^a   Jeanne, Marion ^a   Kauffman, William B ^a   Allen, Jennifer ^a   Favor, Jack ^a   Gould, Douglas B ^a  

^a Department of Ophthalmology and ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4-PHENYLBUTYRIC ACID; ANTINEOPLASTIC AGENT; ARYLBUTYRIC ACID DERIVATIVE; COLLAGEN TYPE 4;

ALLELE; ANIMAL; BASEMENT MEMBRANE; BRAIN; C57BL MOUSE; CELL CULTURE; ENDOPLASMIC RETICULUM STRESS; EYE MALFORMATION; FEMALE; GENETICS; MALE; METABOLISM; MOUSE; MUSCLE DISEASE; MUTATION; OPTIC NERVE DISEASES; PENETRANCE; PROTEIN FOLDING; TEMPERATURE; TRANSGENIC MOUSE;

ALLELES; ANIMALS; ANTINEOPLASTIC AGENTS; BASEMENT MEMBRANE; BRAIN; CELLS, CULTURED; COLLAGEN TYPE IV; ENDOPLASMIC RETICULUM STRESS; EYE ABNORMALITIES; FEMALE; MALE; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MUSCULAR DISEASES; MUTATION; OPTIC NERVE DISEASES; PENETRANCE; PHENYLBUTYRATES; PROTEIN FOLDING; TEMPERATURE;

EID: 84911434970     PISSN: None     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt560     Document Type: Article

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