ライフサイエンスコーパス: abetalipoproteinemia

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1 ning lipoproteins, but when defective causes abetalipoproteinemia.

2 es the human lipoprotein deficiency syndrome abetalipoproteinemia.

3 Mutations in MTP are a major cause of abetalipoproteinemia.

4 -old Turkish male child with severe signs of abetalipoproteinemia.

5 h cause familial hypobetalipoproteinemia and abetalipoproteinemia.

6 ae from familial hypobetalipoproteinemia and abetalipoproteinemia.

7 y recapitulate the phenotype associated with abetalipoproteinemia.

8 Patients with abetalipoproteinemia, a disease caused by defects in the

9 Abetalipoproteinemia (ABL) is a rare Mendelian disorder

10 The serum lipoproteins of five patients with abetalipoproteinemia (ABL) were separated by ultracentri

11 me (DS), cholestatic liver disease (CLD) and abetalipoproteinemia (ABL).

12 absence of a functional 97-kDa subunit cause abetalipoproteinemia, an autosomal recessive disease cha

13 Abetalipoproteinemia, an inherited human disease charact

14 f AVED, of cholestatic liver disease, and of abetalipoproteinemia are thought to be due to lack of ci

15 e transfer protein large subunit (lMTP), the abetalipoproteinemia gene product, is tightly controlled

16 Knowledge of the molecular basis for abetalipoproteinemia has led to the development of thera

17 Characterization of mutations in MTP causing abetalipoproteinemia has revealed that the central alpha

18 Abetalipoproteinemia is a rare autosomal recessive disor

19 s studies showing that the proximal cause of abetalipoproteinemia is an absence of MTP indicate that

20 Abetalipoproteinemia patients with deleterious mutations

21 Whether the abetalipoproteinemia previously described and noted in t

22 responsible for the human recessive disorder abetalipoproteinemia, would recapitulate the lipoprotein

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