Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies

Human Mutation

Volumn 36, Issue 3, 2015, Pages 287-291

  Peeters, Kristien ^a,b   Bervoets, Sven ^a,b   Chamova, Teodora ^c   Litvinenko, Ivan ^c   De Vriendt, Els ^a,b   Bichev, Stoyan ^d   Kancheva, Dahlia ^a,b,c   Mitev, Vanyo ^c   Kennerson, Marina ^e   Timmerman, Vincent ^a,b   De Jonghe, Peter ^a,b,f   Tournev, Ivailo ^c,g   Macmillan, John ^h   Jordanova, Albena ^a,b,c  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^d UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^e UNIVERSITY OF SYDNEY   (Australia)

^f ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^g NEW BULGARIAN UNIVERSITY   (Bulgaria)

^h ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

BICD2; DYNC1H1; HMSN; SMA LED

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CORTICAL DYSPLASIA; DYNEIN C1H1 GENE; EXOME; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LINKAGE ANALYSIS; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SPINAL MUSCULAR ATROPHY; GENETICS; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PROTEIN TERTIARY STRUCTURE;

BICD2 PROTEIN, HUMAN; CYTOPLASMIC DYNEIN; DYNC1H1 PROTEIN, HUMAN; DYNEIN ADENOSINE TRIPHOSPHATASE; MICROTUBULE ASSOCIATED PROTEIN;

CHARCOT-MARIE-TOOTH DISEASE; CYTOPLASMIC DYNEINS; DYNEINS; HUMANS; MICROTUBULE-ASSOCIATED PROTEINS; MUSCULAR ATROPHY, SPINAL; MUTATION; PROTEIN STRUCTURE, TERTIARY;

EID: 84924620393     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22744     Document Type: Article

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