RFLPs for linkage analysis in families with glycogen storage disease type III.

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作者信息

Mishori-Dery A, Bashan N, Moses S, Hershkovitz E, Bao Y, Chen Y T, Parvari R

机构信息

Department of Clinical Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

出版信息

J Inherit Metab Dis. 1995;18(2):207-10. doi: 10.1007/BF00711768.

DOI:10.1007/BF00711768

PMID:7564248

Abstract

摘要

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RFLPs for linkage analysis in families with glycogen storage disease type III.

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引用本文的文献

Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.一名Ⅲa型糖原贮积病的阿什肯纳兹犹太患者糖原脱支酶3'编码区的两个新突变。

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本文引用的文献

Construction of a genetic linkage map in man using restriction fragment length polymorphisms.利用限制性片段长度多态性构建人类遗传连锁图谱。

Am J Hum Genet. 1980 May;32(3):314-31.

Genetic traits and diseases in the North African Jewish community.

Isr J Med Sci. 1973 Sep-Oct;9(9):1407-9.

Neuromuscular involvement in glycogen storage disease type III.III型糖原贮积病的神经肌肉受累情况

Acta Paediatr Scand. 1986 Mar;75(2):289-96. doi: 10.1111/j.1651-2227.1986.tb10201.x.

Assignment of the human glycogen debrancher gene to chromosome 1p21.人类糖原脱支酶基因定位于1号染色体短臂2区1带。

Genomics. 1992 Aug;13(4):931-4. doi: 10.1016/0888-7543(92)90003-b.

Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.编码人肌肉糖原脱支酶的cDNA的分子克隆及核苷酸序列

J Biol Chem. 1992 May 5;267(13):9294-9.

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