Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype

Neurogenetics

Volumn 14, Issue 2, 2013, Pages 113-121

  Tiffin, Heather R ^a   Jenkins, Zandra A ^a   Gray, Mary J ^a   Cameron Christie, Sophia R ^a   Eaton, Jennifer ^b   Aftimos, Salim ^b   Markie, David ^a   Robertson, Stephen P ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b AUCKLAND CITY HOSPITAL   (New Zealand)

Author keywords

EDMD; FHL1; Noonan syndrome; RAS MAPK signalling

Indexed keywords

FHL1 PROTEIN; MEMBRANE PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BRACHYDACTYLY; CLINICAL ARTICLE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FACE DYSMORPHIA; FEMALE; GENE EXPRESSION; GENE LOCUS; GENETIC REGULATION; GENETIC TRANSCRIPTION; GENITAL MALFORMATION; HUMAN; HUMAN CELL; INDEL MUTATION; MALE; NOONAN SYNDROME; PHENOTYPE; PIGEON THORAX; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCOLIOSIS; SHORT STATURE; SIGNAL TRANSDUCTION; THORACIC SCOLIOSIS;

ADULT; AGED; CHILD; FEMALE; HUMANS; INDEL MUTATION; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIM DOMAIN PROTEINS; MALE; MITOGEN-ACTIVATED PROTEIN KINASES; MUSCLE PROTEINS; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; PEDIGREE; PHENOTYPE; PROTEIN ISOFORMS;

EID: 84877737981     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-013-0359-8     Document Type: Article

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