Kollagen Typ IV, alpha 2

Favor J et al. (2007) Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles.

Zhang KW et al. (2007) Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?

Jeanne M et al. (2012) COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

Verbeek E et al. (2012) COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Solomon E et al. (1987) The human alpha 2(IV) collagen gene, COL4A2, is syntenic with the alpha 1(IV) gene, COL4A1, on chromosome 13.

Pollner R et al. (1997) Cooperative and competitive interactions of regulatory elements are involved in the control of divergent transcription of human Col4A1 and Col4A2 genes.

Sado Y et al. (1998) Organization and expression of basement membrane collagen IV genes and their roles in human disorders.

Orphanet article

NCBI article

OMIM.ORG article

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