RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1822, Issue 11, 2012, Pages 1727-1734

  Croteau, Deborah L ^a   Rossi, Marie L ^a   Ross, Jennifer ^a   Dawut, Lale ^a   Dunn, Christopher ^a   Kulikowicz, Tomasz ^a   Bohr, Vilhelm A ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

ATPase; RAPADILINO; RecQ helicase; RECQL4; Rothmund Thomson syndrome

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ALANINE; APADILINO RECQL4 MUTANT PROTEIN; HELICASE; MUTANT PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MALFORMATION; CLINICAL PROTOCOL; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA REPLICATION; ENZYME ACTIVITY; EXON; GENE DELETION; GENOTYPE; GROWTH RETARDATION; IN VIVO STUDY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STABILITY; PROTEIN STRUCTURE; RAPADILINO SYNDROME;

ADENOSINE TRIPHOSPHATASES; ADENOSINE TRIPHOSPHATE; ANAL CANAL; CRANIOSYNOSTOSES; DWARFISM; EXONS; GENETIC ASSOCIATION STUDIES; GENOMIC INSTABILITY; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; LIMB DEFORMITIES, CONGENITAL; MUTATION; PATELLA; RADIUS; RECQ HELICASES; RNA SPLICE SITES; ROTHMUND-THOMSON SYNDROME;

EID: 84865074479     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2012.07.014     Document Type: Article

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