Llwytho...
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.
A large kindred with adult-type X-linked Alport syndrome was studied with regard to a defect in the recently described COL4A5 collagen gene. Southern blot analysis with COL4A5 cDNA probes showed loss of a MspI restriction site. Direct sequencing of cDNA amplified from lymphoblast mRNA demonstrated a...
Wedi'i Gadw mewn:
Prif Awduron: | , , , , , , , , |
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Fformat: | Artigo |
Iaith: | Inglês |
Cyhoeddwyd: |
1992
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Pynciau: | |
Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1682875/ https://ncbi.nlm.nih.gov/pubmed/1376965 |
Tagiau: |
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