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Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family
(Neurogenetics : 4 (4) p. 191-197, 2003-07-05)
Abstract. Charcot-Marie-Tooth disease type IB (CMT 1B) is caused by mutations in the gene
coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion
and compaction of peripheral myelin. ...
Helicobacter pylori in a Costa Rican dyspeptic patient population
(1994-03)
Gastric biopsies from 65 Costa Rican dyspeptic patients were investigated for the presence ofHelicobacter pylori DNA by polymerase chain reaction (PCR) amplification of 16S rRNA sequences. Both frozen and paraffin-embedded ...
Estado nutricional en Amerindios en Costa Rica 1979-1984
(1985)
Several expeditions were made during the period 1979 -1984 to the Amerindian
localities Limoncito and Abrojo (Guaymi);Cabagra aend Amubri (BriBri); Boruca (Boruca) and Ujarras (Cabecar); in order to evaluate the ...
Uses and misuses of definitions of genetic polymorphism: A perspective from population pharmacogenetics
(1991)
Definitions of genetic polymorphism currently employed
in the pharmacological literature have been incorrectly
used (Kalow, 1984) and uncritically imported from
population genetics [e.g., Weinshilboum (1984), Evans
(1977)], ...
Diversidad genética y mezcla racial en los amerindios de Costa Rica y Panamá
(1993)
The genetic diversity of nine Amerindian tribes (Borne*, Bokota, Bribri, Cabecar, Gourmet, Guaymi.,
Hues's, Kuna and Teribe) from Costa Rica and Panama were analyzed using 48 loci of enzimatic systems, blood
groups and ...
A novel myosin heavy chain gene in human chromosome 19q13.3
(Gene: 312 p. 165-171, 2003-07)
A human myosin heavy chain gene was identified in chromosome 19q13 by computational sequence analysis, RT-PCR and DNA
sequencing of the cDNA. The complete cDNA has a length of 6786 bp and comprises 41 exons (40 coding) ...
Genetic diversity and evolution of the human leptin locus tetranucleotide repeat
(Hum Genet 110; p. 412-417, 2002)
To better understand the evolutionary history
of the gene region containing the multifunctional adipose
tissue hormone leptin, we genotyped 1,957 individuals
from 12 world populations for a highly variable tetranucleo ...
Varios genes descartados como causantes de retinosis pigmentaria autosómica recesiva en dos familias costarricenses
(1998-07)
Se estudiaron dos familias costarricenses con Retinosis Pigmentaria (RP) de herencia autosomica recesiva, con el fin de descartar genes relacionados con la enfermedad. Para esto se efectuó un análisis de ligamiento con ...
The oxidative metabolism of sparteine in the Cuna Amerindians of Panama: Absence of evidence for defient metabolizers
(1988-04-20)
Sparteine sulfate (50 mg) was administered to 170 Cuna Amerindians, 142 of whom were unrelated, and the drug and its dehydrometabolites were determined in the 0- to 12-hour urine samples. The log10 of the metabolic ratio ...
Epidemiología y ecología del cáncer gástrico en Costa Rica
(Bol Oficina Sanit Panam journal 95(6) p. 495 - 506, 1983-12)
Para analizar la epidemiología del cáncer gástrico en Costa Rica y la posible influencia de algunos factores ecológicos en su incidencia anual, se utilizaron datos de los archivos deI Registro Nacional de Tumores, estos ...