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Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.

作者信息

Vladutiu Georgirene D, Quackenbush Elizabeth J, Hainline Bryan E, Albers Simone, Smail David S, Bennett Michael J

机构信息

Division of Genetics, Children's Hospital of Buffalo and Department of Pediatrics, School of Medicine and Biomedical Sciences, University at Buffalo, New York 14209, USA.

出版信息

J Pediatr. 2002 Nov;141(5):734-6. doi: 10.1067/mpd.2002.128545.

DOI:10.1067/mpd.2002.128545
PMID:12410208
Abstract

We describe a lethal neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency with compound heterozygosity for 2 truncation mutations (Q413fs and 109AGC --> GCAGC). A new phenotype for a severe late infantile form of CPT II deficiency with hypoglycemia is associated with compound heterozygosity for the severe Q413fs mutation and a mild point mutation (P50H).

摘要

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