A NOVEL MUTATION IN ERYTHROPOIETIC PROTOPORPHYRIA - AN ABERRANT FERROCHELATASE MESSENGER-RNA CAUSED BY EXON SKIPPING DURING RNA SPLICING

被引：36

作者：

WANG, XH

POHFITZPATRICK, M

CARRIERO, D

OSTASIEWICZ, L

CHEN, T

TAKETANI, S

PIOMELLI, S

机构：

[1] NEW YORK MED COLL,DEPT DERMATOL,VALHALLA,NY 10595

[2] KANSAI MED UNIV,DEPT HYG,MORIGUCHI,OSAKA 570,JAPAN

来源：

BIOCHIMICA ET BIOPHYSICA ACTA | 1993年 / 1181卷 / 02期

关键词：

ERYTHROPOIESIS; FERROCHELATASE; SPLICING; EXON SKIPPING;

D O I：

10.1016/0925-4439(93)90112-E

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

An aberrant ferrochelatase mRNA lacking exon 10 was found in a patient with erythropoietic protoporphyria (EPP). In her genomic DNA an A --> T transversion at position - 3 of the donor site of intron 10 appeared to be responsible for the exon skipping. Both the patient and her sister were heterozygous for this mutation.

引用

页码：198 / 200

页数：3

共 12 条

[1]

BRENNER DA, 1992, AM J HUM GENET, V50, P1203

[2] DIRECT SELECTION FOR MUTATIONS AFFECTING SPECIFIC SPLICE SITES IN A HAMSTER DIHYDROFOLATE-REDUCTASE MINIGENE [J].