COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke

American Journal of Human Genetics

Volumn 90, Issue 1, 2012, Pages 91-101

  Jeanne, Marion ^a   Labelle Dumais, Cassandre ^a   Jorgensen, Jeff ^a   Kauffman, W Berkeley ^a   Mancini, Grazia M ^b   Favor, Jack ^c   Valant, Valerie ^d   Greenberg, Steven M ^d   Rosand, Jonathan ^d   Gould, Douglas B ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA 1; COLLAGEN TYPE 4 ALPHA 2; UNCLASSIFIED DRUG;

ARTICLE; BASEMENT MEMBRANE; BRAIN BLOOD VESSEL; BRAIN HEMORRHAGE; CELL ASSAY; CEREBROVASCULAR DISEASE; COHORT ANALYSIS; CONTROLLED STUDY; CYTOTOXICITY; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN SECRETION; UNFOLDED PROTEIN RESPONSE;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; COLLAGEN TYPE IV; ENDOPLASMIC RETICULUM STRESS; FEMALE; HUMANS; INTRACRANIAL HEMORRHAGES; MALE; MICE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; STROKE; UNFOLDED PROTEIN RESPONSE;

MUS;

EID: 84855843828     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.11.022     Document Type: Article

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