Worldwide mutation spectrum in cartilage-hair hypoplasia: Ancient founder origin of the major 70A → G mutation of the untranslated RMRP

European Journal of Human Genetics

Volumn 10, Issue 7, 2002, Pages 439-447

  Ridanpää, Maaret ^a   Sistonen, Pertti ^b   Rockas, Susanna ^a   Rimoin, David L ^c   Mäkitie, Outi ^d   Kaitila, Ilkka ^e  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FINNISH RED CROSS BLOOD SERVICE   (Finland)

^c CEDARS SINAI MEDICAL CENTER   (United States)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Age estimation; Ancestral haplotype; Cartilage hair hypoplasia; Mutation; RMRP; Untranslated gene

Indexed keywords

ADENINE; GUANINE; NUCLEOTIDE; RIBONUCLEASE; RNA; MITOCHONDRIAL RNA PROCESSING ENDORIBONUCLEASE; MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE;

5' UNTRANSLATED REGION; ARTICLE; AUSTRALIA; CARTILAGE HAIR HYPOPLASIA; CHONDRODYSPLASIA; CHROMOSOME 9P; CONTROLLED STUDY; EUROPE; FAMILY; FINLAND; GENE DUPLICATION; GENE INSERTION; GENE LINKAGE DISEQUILIBRIUM; GENEALOGY; GENETIC TRANSCRIPTION; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MAXIMUM LIKELIHOOD METHOD; MUTATIONAL ANALYSIS; NORTH AMERICA; NUCLEAR LOCALIZATION SIGNAL; NUCLEIC ACID BASE SUBSTITUTION; PLEIOTROPY; PRIORITY JOURNAL; PROMOTER REGION; RNA TRANSLATION; SEGREGATION ANALYSIS; SOUTH AMERICA; CHONDROPATHY; FOUNDER EFFECT; GENETIC MARKER; GENETICS; MUTATION; POINT MUTATION; STATISTICAL MODEL;

CARTILAGE DISEASES; ENDORIBONUCLEASES; FINLAND; FOUNDER EFFECT; GENETIC MARKERS; HAPLOTYPES; HUMANS; LIKELIHOOD FUNCTIONS; MUTATION; POINT MUTATION; PROMOTER REGIONS (GENETICS);

EID: 0036046159     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200824     Document Type: Article

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