A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

American Journal of Human Genetics

Volumn 67, Issue 4, 2000, Pages 814-821

  Johnston, Jennifer J ^a   Kelley, Richard I ^c,e   Crawford, Thomas O ^d   Morton, D Holmes ^e   Agarwala, Richa ^b   Koch, Thorsten ^f   Schäffer, Alejandro A ^b   Francomano, Clair A ^a   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e CLINIC FOR SPECIAL CHILDREN   (United States)

^f ZUSE INSTITUTE BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CLINICAL FEATURE; DNA DETERMINATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; HUMAN; NEMALINE MYOPATHY; PATHOGENESIS; PEDIGREE; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; RESPIRATORY FAILURE; SEQUENCE ANALYSIS;

EID: 0033799745     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/303089     Document Type: Article

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