Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

European Journal of Human Genetics

Volumn 23, Issue 7, 2015, Pages 929-934

  Nectoux, Juliette ^a,b   De Cid, Rafael ^c,m   Baulande, Sylvain ^d   Leturcq, France ^a,e   Urtizberea, Jon Andoni ^f   Penisson Besnier, Isabelle ^g   Nadaj Pakleza, Aleksandra ^g   Roudaut, Carinne ^c   Criqui, Audrey ^d   Orhant, Lucie ^a   Peyroulan, Delphine ^h   Ben Yaou, Raba ^e   Nelson, Isabelle ^e   Cobo, Anna Maria ^f   Arné Bes, Marie Christine ⁱ   Uro Coste, Emmanuelle ⁱ   Nitschke, Patrick ^b   Claustres, Mireille ^h,j   Bonne, Gisèle ^e,k   Lévy, Nicolas ^l   Chelly, Jamel ^a,b   Richard, Isabelle ^c   Cossée, Mireille ^h,j   more..

^a Laboratoire de Biochimie et Génétique Moléculaire ^*  (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c GÉNÉTHON   (France)

^d Parc Scientifique de Luminy   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f ENDO ERN   (France)

^g ANGERS UNIVERSITY HOSPITAL   (France)

^h MONTPELLIER UNIVERSITY HOSPITAL   (France)

ⁱ TOULOUSE UNIVERSITY HOSPITAL   (France)

^j INSERM   (France)

^k PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^l AIX MARSEILLE UNIVERSITY   (France)

^m Campus de Can Ruti   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN ASTN2; PROTEIN TRIM32; UNCLASSIFIED DRUG; TRANSCRIPTION FACTOR; TRIM32 PROTEIN, HUMAN; TRIPARTITE MOTIF PROTEIN; UBIQUITIN PROTEIN LIGASE;

ADULT; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONTRACTURE; CONTROLLED STUDY; ECHOCARDIOGRAPHY; ELECTROMYOGRAPHY; FORCED VITAL CAPACITY; FRAMESHIFT MUTATION; GENE DELETION; GENE INACTIVATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HIGH THROUGHPUT SCREENING; HOMOZYGOTE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMITED MOBILITY; LONG TERMINAL REPEAT; MALE; MIDDLE AGED; MUSCLE BIOPSY; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; QUADRICEPS FEMORIS MUSCLE; SHORT TERM MEMORY; WEAKNESS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PROCEDURES;

ADULT; BASE SEQUENCE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE DELETION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; PEDIGREE; TRANSCRIPTION FACTORS; TRIPARTITE MOTIF PROTEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 84930867201     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.223     Document Type: Article

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