A novel autosomal recessive ''Huntington's disease-like'' neurodegenerative disorder in a Saudi family. Abdelra/unau Y. Al-Talum, MD, FRCP, Madai P.
Mc Bgll. *.. Psd. I. I. I I. I. I. I. I. 1. 72. 142 159. 318. I a Bglll. FIG. 1. Restriction map of p47-phox cDNA. (a) Probes used for preliminary analysis of AR-CGDRNA.
APTX. 54840. Chr9: 32.96-32.99. Chr11: 53.14-53.15. Ataxia with oculomotor apraxia 1 (AOA1), AR. Date ym. 2001. SETX. 23064. Chr9: 134.13-134.22.
symptom end-stage renal failure in adulthood without ... the parents and two sisters was completely normal. ... carrier sister and a non-carrier sister (Figure 3).
Ataxia-telangiectasia- like disorder. MRE11A (11q21). Meiotic recombination 11. DNA double strand break repair. Ataxia with oculomotor apraxia type 1.
1995; 5:1714-1717). ABSTRACT. Autosomal recessive. Alport syndrome can arise ... Alport syndrome. Sensorineural deafness developed during adolescence, and ..... Turner. N, Mason. PJ,. Brown. R, et at.: Molecular cloning of the human.
Autosomal Recessive Chronic Granulomatous Disease With Absence of the. 67-kD Cytosolic NADPH Oxidase Component: Identification of Mutation and.
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Campuzano, Victoria;Montermini, Laura;Molto, Maria ...
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion Campuzano, Victoria;Montermini, Laura;Molto, Maria Dolores;Pianese, Luigi;et al Science; Mar 8, 1996; 271, 5254; ProQuest Central pg. 1423
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Reproduced with permission of the copyright owner. Further reproduction prohibited without permission.
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