Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome

Human Mutation

Volumn 7, Issue 2, 1996, Pages 149-150

  Tverskaya, Svetlana ^a   Bobrynina, Vlasta ^b   Tsalykova, Fatima ^c   Ignatova, Maya ^c   Krasnopolskaya, Xenia ^a   Evgrafov, Oleg ^a  

^a RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^b Research Institute of Pediatric Hematology   (Russian Federation)

^c PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALPORT SYNDROME; ARTICLE; CASE REPORT; DNA DETERMINATION; DNA SEQUENCE; FEMALE; HUMAN; POINT MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SYNDROME DELINEATION; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; COLLAGEN; DNA PRIMERS; FEMALE; HUMANS; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; NEPHRITIS, HEREDITARY; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; X CHROMOSOME;

EID: 0029997620     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:2<149::AID-HUMU9>3.0.CO;2-7     Document Type: Article

References (15)

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