Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)

European Journal of Human Genetics

Volumn 7, Issue 6, 1999, Pages 664-670

  Hastbacka, J ^a   Kerrebrock, A ^a   Mokkala, K ^a   Clines, G ^a   Lovett, M ^a   Kaitila, I ^a   De la Chapelle, A ^a   Lander, E S ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Disease mutation; DTDST; Skeletal dysplasia; Splice site mutation

Indexed keywords

MESSENGER RNA; SULFATE;

ARTICLE; BONE DYSPLASIA; CONTROLLED STUDY; EXON; FINLAND; GENE DELETION; GENE MUTATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

ANION TRANSPORT PROTEINS; BONE DISEASES, DEVELOPMENTAL; CARRIER PROTEINS; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; EXONS; FINLAND; FOUNDER EFFECT; GENETIC SCREENING; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MEMBRANE TRANSPORT PROTEINS; MODELS, GENETIC; MUTATION; OSTEOCHONDRODYSPLASIAS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER;

EID: 0032858507     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200361     Document Type: Article

References (21)