A Novel Donor Splice Site Mutation in the Glycogen Debranching Enzyme Gene Is Associated with Glycogen Storage Disease Type III

By Okubo M.   Aoyama Y.   Murase T.  

Biochemical and Biophysical Research Communications, Vol. 224, Iss. 2, 1996-07 ,pp. : 493-499

Elsevier

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Volume 224, Number 2 (1996), in the article "A Novel Donor Splice Site Mutation in the Glycogen Debranching Enzyme Gene Is Associated with Glycogen Storage Disease Type III," by Minoru Okubo, Yoshiko Aoyama, and Toshio Murase, pages 493-499

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Biochemical and Biophysical Research Communications, Vol. 225, Iss. 2, 1996-08 ,pp. : 695-695

Elsevier

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The quakingviable mutation affects qkI mRNA expression specifically in myelin‐producing cells of the nervous system

By Lu Zifan   Zhang Youyi   Ku Li   Wang Houping   Ahmadian Amir   Feng Yue  

Nucleic Acids Research, Vol. 31, Iss. 15, 2003-08 ,pp. : 4616-4624

Oxford University Press

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Familial Chylomicronemia Caused by a Novel Type of Mutation in the APOE-CI-CIV-CII Gene Cluster Encompassing Both the APOCII Gene and the First APOCIV Gene Mutation: APOCII-CIV_Nijmegen

By de Graaf J.   Hoffer M.J.V.   Stuyt P.M.J.   Frants R.R.   Stalenhoef A.F.H.  

Biochemical and Biophysical Research Communications, Vol. 273, Iss. 3, 2000-07 ,pp. : 1084-1087

Elsevier

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Hypothyroidism in a Brazilian Kindred Due to Iodide Trapping Defect Caused by a Homozygous Mutation in the Sodium/Iodide Symporter Gene

By Pohlenz J.   Medeiros-Neto G.   Gross J.L.   Silveiro S.P.   Knobel M.   Refetoff S.  

Biochemical and Biophysical Research Communications, Vol. 240, Iss. 2, 1997-11 ,pp. : 488-491

Elsevier

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