Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family

European Journal of Medical Genetics

Volumn 58, Issue 4, 2015, Pages 216-221

  Jelani, Musharraf ^a,e   Ahmed, Saleem ^a,b   Almramhi, Mona Mohammad ^a   Mohamoud, Hussein Sheikh Ali ^a,d   Bakur, Khadijah ^a   Anshasi, Waseem ^c   Wang, Jun ^a,f   Al Aama, Jumana Yousuf ^a,b  

^a KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^b Aziz University   (Saudi Arabia)

^c KING ABDUL AZIZ UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e KHYBER MEDICAL UNIVERSITY   (Pakistan)

^f BGI SHENZHEN   (China)

Author keywords

Lipodystrophy; Novel mutation; PTRF; Saudi Arabia

Indexed keywords

ADIPONECTIN; CREATINE KINASE; HYPOCHOLESTEROLEMIC AGENT; LEPTIN; LEVOTHYROXINE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; STAVASTATIN; THYROTROPIN; THYROXINE; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; PTRF PROTEIN, HUMAN; RNA BINDING PROTEIN; STOP CODON;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17Q; CONGENITAL GENERALIZED LIPODYSTROPHY; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DENTAL CARIES; DNA SEQUENCE; DRUG WITHDRAWAL; GENE; GENE MAPPING; GENETIC ASSOCIATION; GROWTH RETARDATION; HETEROZYGOSITY LOSS; HOMOZYGOSITY; HUMAN; HYPERLIPIDEMIA; HYPOTHYROIDISM; MALE; NONSENSE MUTATION; PES EQUINOVARUS; PRESCHOOL CHILD; PROTEIN BLOOD LEVEL; PTRF GENE; SAUDI ARABIA; SPASTIC PARAPLEGIA; STOP CODON; CHROMOSOME 17; GENETICS; HIGH THROUGHPUT SEQUENCING; NUCLEOTIDE SEQUENCE; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; CODON, NONSENSE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LIPODYSTROPHY, CONGENITAL GENERALIZED; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA-BINDING PROTEINS; SAUDI ARABIA; SEQUENCE ANALYSIS, DNA;

EID: 84928942411     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.02.002     Document Type: Article

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