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Literature DB >> 8655156

A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.

Abstract

Sequencing of the STA gene in a patient with Emery-Dreifuss muscular dystrophy showed a 1-bp deletion of C at nucleotide 672 or 673. This deletion causes a frameshift, changing the amino acid sequence (amino acids 206-235) and generating an early stop codon.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1996 PMID： 8655156 DOI： 10.1007/bf02281886

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

4 in total

1. A simple method for displaying the hydropathic character of a protein.

Authors: J Kyte; R F Doolittle
Journal: J Mol Biol Date: 1982-05-05 Impact factor: 5.469

2. The rigid spine syndrome and Emery-Dreifuss muscular dystrophy.

Authors: I Goto; S Ishimoto; T Yamada; H Hara; Y Kuroiwa
Journal: Clin Neurol Neurosurg Date: 1986 Impact factor: 1.876

3. Emery-Dreifuss muscular dystrophy.

Authors: L P Rowland; M Fetell; M Olarte; A Hays; N Singh; F E Wanat
Journal: Ann Neurol Date: 1979-02 Impact factor: 10.422

4. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.

Authors: S Bione; E Maestrini; S Rivella; M Mancini; S Regis; G Romeo; D Toniolo
Journal: Nat Genet Date: 1994-12 Impact factor: 38.330

4 in total

3 in total

A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.

1. A simple method for displaying the hydropathic character of a protein.

2. The rigid spine syndrome and Emery-Dreifuss muscular dystrophy.

3. Emery-Dreifuss muscular dystrophy.

4. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.

Review 1. Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.

2. Generation and Analysis of Striated Muscle Selective LINC Complex Protein Mutant Mice.

Review 3. Linker of nucleoskeleton and cytoskeleton complex proteins in cardiomyopathy.