Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

American journal of ophthalmology

Volumn 155, Issue 5, 2013, Pages 946-953

  Rødahl, Eyvind ^a   Knappskog, Per M ^a   Majewski, Jacek ^a   Johansson, Stefan ^a   Telstad, Wenche ^a   Kråkenes, Jostein ^a   Boman, Helge ^a  

^a not available ^*

Author keywords

[No Author keywords available]

Indexed keywords

COL4A1 PROTEIN, HUMAN; COLLAGEN TYPE 4; DNA;

ADULT; AGED; ANTERIOR EYE SEGMENT; ARTICLE; CEREBROVASCULAR DISEASE; CHILD; COMPARATIVE STUDY; CONGENITAL MALFORMATION; EYE MALFORMATION; GENETICS; HETEROZYGOTE; HUMAN; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RETROSPECTIVE STUDY; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; ANTERIOR EYE SEGMENT; CEREBROVASCULAR DISORDERS; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; DNA; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDIES; YOUNG ADULT;

MLCS; MLOWN;

EID: 85027954252     PISSN: None     EISSN: 18791891     Source Type: None    
DOI: 10.1016/j.ajo.2012.11.028     Document Type: Article

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