Italian guidelines for molecular analysis in myotonic dystrophies

Acta Myologica

Volumn 25, Issue 1, 2006, Pages 23-33

  Botta, A ^a   Bonifazi, E ^a,b   Vallo, L ^a   Gennarelli, M ^c   Garre C ^d   Salehi, L ^b   Iraci, R ^b   Sansone, V ^e   Meola, G ^e   Novelli, Giuseppe ^a,b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b Genetics Section   (Italy)

^c IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

Author keywords

Genetic test; Guidelines; Myotonic dystrophies (DM)

Indexed keywords

GLUCOSE; MYOTONIC DYSTROPHY PROTEIN KINASE; NUCLEOTIDE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 19Q; CHROMOSOME 3Q; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE; HUMAN; HYPERINSULINEMIA; INCLUSION BODY MYOSITIS; INTRON; ITALY; LABORATORY; LEGAL ASPECT; LIMB GIRDLE MUSCULAR DYSTROPHY; MEDICAL ETHICS; MEDICAL PRACTICE; MOLECULAR BIOLOGY; MULTIPLE ORGAN FAILURE; MUSCULAR DYSTROPHY; MYOTONIC DYSTROPHY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRACTICE GUIDELINE; PRENATAL CARE; PROTEIN LOCALIZATION; RNA SPLICING; RNA TRANSLATION; SOCIAL ASPECT; SOUTHERN BLOTTING; SPINAL MUSCULAR ATROPHY; THOMSEN DISEASE;

GENETIC SCREENING; GENETIC TESTING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MYOTONIC DYSTROPHY; PROTEIN-SERINE-THREONINE KINASES; RNA-BINDING PROTEINS;

EID: 33747517559     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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