The clinical spectrum of type IV collagen mutations

Human Mutation

Volumn 9, Issue 6, 1997, Pages 477-499

  Lemmink, Henny H ^a   Schroder, Cornelis H ^a   Monnens, Leo A H ^a   Smeets, Hubert J M ^b,c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c Division of Genetics   (Netherlands)

Author keywords

Alport syndrome; Hereditary nephritis; Type IV collagen gene mutations

Indexed keywords

COLLAGEN TYPE 4;

ALPORT SYNDROME; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; GENE MUTATION; HEARING IMPAIRMENT; HEMATURIA; HUMAN; KIDNEY FAILURE; LEIOMYOMATOSIS; NEPHRITIS; PRIORITY JOURNAL; REVIEW; X CHROMOSOME LINKED DISORDER;

EID: 0030913337     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1997)9:6<477::aid-humu1>3.0.co;2-%23     Document Type: Review

References (4)

1. Alport AC (1927) Hereditary familial congenital haemorrhagic nephritis. BMJ 1:504-506.
2. Antignac C, Zhou J, Sanak M, Cochat P, Roussel B, Deschenes G, Knebelmann B, Hors-Cayla MC, Tryggvason K, Gubler M-C (1992) Alport syndrome and diffuse leiomyomatosis: Deletions in the 5 end of the COL4A5 collagen gene. Kidney Int 42:1178-1183.
3. Zhou J, Leinonen A, Tryggvason K (1994a) Structure of the human type IV collagen COL4A5 gene. J Biol Chem 269:6608-6614.
4. Zhou J, Ding M, Zhao Z, Reeders ST (1994b) Complete primary structure of the sixth chain of human basement membrane collagen, α6(IV). J Biol Chem 269:13193-13199.