Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe

European Journal of Human Genetics

Volumn 16, Issue 12, 2008, Pages 1499-1506

  Koehler, Katrin ^a   Brockmann, Knut ^b   Krumbholz, Manuela ^a,c   Kind, Barbara ^a   Bönnemann, Carsten ^d   Gärtner, Jutta ^b   Huebner, Angela ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; ALACRIMA ACHALASIA ADRENAL INSUFFICIENCY PROTEIN; CYTOSINE; GENE PRODUCT; GREEN FLUORESCENT PROTEIN; GUANOSINE; LEUCINE; PHENYLALANINE; THYMIDINE; UNCLASSIFIED DRUG;

ADOLESCENT; ALACRIMA ACHALASIA ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; ECHOGRAPHY; ELECTROMYOGRAPHY; EXON; FEMALE; GENE FUNCTION; GENETIC SCREENING; GENETIC TRANSCRIPTION; HEMIZYGOSITY; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MOTOR NEUROPATHY; MUSCLE ATROPHY; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR PORE COMPLEX; PHYSICAL EXAMINATION; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; VISUAL SYSTEM EXAMINATION;

AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; FEMALE; HELA CELLS; HUMANS; LACRIMAL APPARATUS DISEASES; LEUCINE; MUSCULAR ATROPHY; MUSCULOSKELETAL ABNORMALITIES; NERVE TISSUE PROTEINS; NUCLEAR PORE COMPLEX PROTEINS; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENYLALANINE; POINT MUTATION; SYNDROME; TRANSFECTION;

EID: 56749097504     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.132     Document Type: Article

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