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

Human Genetics

Volumn 97, Issue 5, 1996, Pages 693-694

  Yamada, Takeshi ^a   Kobayashi, Takuro ^a  

^a KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EMERIN; MUSCLE PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHROMOSOME XQ; FRAMESHIFT MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; MALE; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; STOP CODON;

ADOLESCENT; AMINO ACID SEQUENCE; BASE COMPOSITION; BASE SEQUENCE; CHILD; DNA PRIMERS; EXONS; HUMANS; INTRONS; JAPAN; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; PROTEIN CONFORMATION; REFERENCE VALUES; SEQUENCE DELETION; THYMOPOIETINS; X CHROMOSOME;

EID: 0029988796     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02281886     Document Type: Article

References (4)

1. Bione S, Maestrini E. Rivella S, Mancini M, Regis S, Romeo G. Toniolo D (1994) Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 8: 323-332
2. Goto I, Ishimoto S. Yamada T, Hara H, Kuroiwa Y (1986) The rigid spine syndrome and Emery-Dreifuss muscular dystrophy. Clin Neurol Neurosurg 88: 293-298
3. Kyte J, Doolittle F (1982) A simple method for displaying the hydropathic character of a protein. J Mol Biol 157: 105-132
4. Rowland LP, Fetell M. Olarte M, Hays A, Singh N, Wanat FE (1979) Emery-Dreifuss muscular dystrophy. Ann Neurol 5: 111-117