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Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.

The coding region of the low density lipoprotein (LDL)-receptor gene from a patient (MM) with homozygous familial hypercholesterolemia (FH) has been sequenced from six overlapping 500-base-pair amplified fragments of the cDNA from cultured skin fibroblasts. Two separate single nucleotide base change...

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Bibliografiska uppgifter
Huvudupphovsmän: Soutar, A K, Knight, B L, Patel, D D
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1989
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC287410/
https://ncbi.nlm.nih.gov/pubmed/2726768
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