A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis

Genome Research

Volumn 6, Issue 11, 1996, Pages 1051-1055

  Johnson, Maureen R ^a   Polymeropoulos, Mihael H ^b   Vos, Hans L ^c   Ortiz De Luna, Rosa Isela ^d   Francomano, Clair A ^a  

^a Medical Genetics Branch   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c NETHERLANDS CANCER INSTITUTE   (Netherlands)

^d HOSPITAL INFANTIL DE MÉXICO FEDERICO GÓMEZ   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN; DNA MARKER; MESSENGER RNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CHROMOSOME 1Q; CLINICAL ARTICLE; FEMALE; GENE LOCATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; STOP CODON;

BLOTTING, SOUTHERN; BONE DISEASES, DEVELOPMENTAL; CATHEPSINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CODON, NONSENSE; CONSANGUINITY; DNA PRIMERS; GENETIC DISEASES, INBORN; GENETIC MARKERS; HUMANS; LINKAGE (GENETICS); LOD SCORE; MEXICO; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ANALYSIS;

EID: 0029800843     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.6.11.1050     Document Type: Article

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