Homozygosity Mapping of the Werner Syndrome Locus (WRN)

Werner syndrome (WS) is an autosomal recessive disorder characterized by the early onset of several age-related diseases. The locus for this disease was recently mapped to 8p12. We studied 27 WS kindreds of mixed ethnic origins, 26 of which were consanguineous. In 24 of these families, the affected...

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Veröffentlicht in:	Genomics 1994-10, Vol.23 (3), p.600-608
Hauptverfasser:	Nakura, Jun, Wijsman, Ellen M., Miki, Tetsuro, Kamino, Kouzin, Yu, Chang-En, Oshima, Junko, Fukuchi, Ken-ichiro, Weber, James L., Piussan, Charles, Melaragno, Maria I., Epstein, Charles J., Scappaticci, S., Fraccaro, Marco, Matsumura, Toshiharu, Murano, Shunichi, Yoshida, Sho, Fujiwara, Yoshisada, Saida, Toshiaki, Ogihara, Toshio, Martin, George M., Schellenberg, Gerard D.
Format:	Artikel
Sprache:	eng
Schlagworte:	AGE DEPENDENCE Alleles Biological and medical sciences BIOLOGICAL MARKERS BIOLOGY AND MEDICINE, BASIC STUDIES Chromosome Mapping Chromosomes, Human, Pair 8 Complex syndromes DIAGNOSIS Ethnic Groups GENES Genetic Linkage GENETIC MAPPING Genetic Markers GENOTYPE HEREDITARY DISEASES Homozygote HUMAN CHROMOSOME 8 Humans L CODES Lod Score Medical genetics Medical sciences PATIENTS Pedigree PHENOTYPE Polymorphism, Genetic RECESSIVE MUTATIONS Registries Repetitive Sequences, Nucleic Acid Software STATISTICS Werner Syndrome - diagnosis Werner Syndrome - genetics
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