Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome

Nature Genetics

Volumn 12, Issue 2, 1996, Pages 130-136

  Dixon, Jill ^b   Edwards, Sara J ^b   Gladwin, Amanda J ^b   Dixon, Michael J ^b   Loftus, Stacie K ^b   Bonner, Cynthia A ^b   Koprivnikar, Kathryn ^b   Wasmuth, John J ^b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 5Q; CLINICAL FEATURE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; GENE ISOLATION; GENE MUTATION; HUMAN; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR CLONING; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PEDIGREE; PHOSPHOPROTEINS; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPETITIVE SEQUENCES, NUCLEIC ACID; SPECIES SPECIFICITY;

EID: 0030070052     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0296-130     Document Type: Article

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