Abetalipoproteinemia Due to a Novel Splicing Variant in in 3 Siblings
Abetalipoproteinemia (ABL) is a rare recessive condition caused by biallelic loss-of-function mutations in the MTTP gene encoding the microsomal triglyceride transfer protein large subunit. ABL is characterized by absence of apolipoprotein B-containing lipoproteins and deficiencies in fat-soluble vi...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
SAGE Publishing,
2021-06-01T00:00:00Z.
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