A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

Human Molecular Genetics

Volumn 23, Issue 15, 2014, Pages 4103-4110

  Vieira, Natássia M ^a,b,c   Naslavsky, Michel S ^a   Licinio, Luciana ^a   Kok, Fernando ^a,d   Schlesinger, David ^a,d,e   Vainzof, Mariz ^a   Sanchez, Nury ^f   Kitajima, João Paulo ^a,d   Gal, Lihi ^g   Cavaçana, Natale ^a   Serafini, Peter R ^b,c   Chuartzman, Silvia ^g   Vasquez, Cristina ^f   Mimbacas, Adriana ^h   Nigro, Vincenzo ⁱ   Pavanello, Rita C ^a   Schuldiner, Maya ^g   Kunkel, Louis M ^b,c   Zatz, Mayana ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d Mendelics Aná lise Genômica   (Brazil)

^e HOSPITAL ISRAELITA ALBERT EINSTEIN   (Brazil)

^f HOSPITAL DE CLÍNICAS   (Uruguay)

^g WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^h Department of Genetics Clemente Estabele Institute   (Uruguay)

ⁱ TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HNRPDL PROTEIN; RIBONUCLEOPROTEIN; UNCLASSIFIED DRUG; CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR; HNRPDL PROTEIN, HUMAN; HRP1 PROTEIN, S CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BIOGENESIS; BRAZIL; CAUCASIAN; CELLULAR DISTRIBUTION; CODON; CONTROLLED STUDY; EMBRYO; GENE LOCUS; GENE MUTATION; HUMAN; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; IN VIVO STUDY; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY 1G; METABOLISM; MUSCLE DEVELOPMENT; MUSCLE WEAKNESS; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFECT; RNA PROCESSING; SACCHAROMYCES CEREVISIAE; WESTERN BLOTTING; ZEBRA FISH; ANIMAL; CHROMOSOME MAP; FEMALE; GENE EXPRESSION; GENETICS; MALE; MUTATION; PATHOLOGY; PEDIGREE; SKELETAL MUSCLE;

ADULT; ANIMALS; CHROMOSOME MAPPING; FEMALE; GENE EXPRESSION; GENETIC LOCI; HUMANS; MALE; MRNA CLEAVAGE AND POLYADENYLATION FACTORS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PEDIGREE; PHENOTYPE; RIBONUCLEOPROTEINS; RNA PROCESSING, POST-TRANSCRIPTIONAL; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; ZEBRAFISH;

EID: 84900523057     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu127     Document Type: Article

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