Works matching IS 00099163 AND DT 1998 AND VI 54 AND IP 3
Results: 22
A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 248, doi. 10.1111/j.1399-0004.1998.tb04295.x
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- Article
A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 219, doi. 10.1111/j.1399-0004.1998.tb04288.x
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- Article
Analysis of the transactivation domain of the androgen receptor in patients with male infertilitv.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 185, doi. 10.1111/j.1399-0004.1998.tb04282.x
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Prevalence of homozygosity for the deleted alleles of glutathione S-transferase mu (GSTMl) and theta (GSTTl) among distinct ethnic groutx from Brazil: relevance to enviromental carcinogenesis?
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- Clinical Genetics, 1998, v. 54, n. 3, p. 210, doi. 10.1111/j.1399-0004.1998.tb04286.x
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Distribution of CAG repeats in normal. and Huntington's disease patients in Israel.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 250, doi. 10.1111/j.1399-0004.1998.tb04296.x
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- Article
Molecular basis of cystic fibrosis in the Republic of Macedonia.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 203, doi. 10.1111/j.1399-0004.1998.tb04285.x
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- Article
The Met54Leu polymorphism of paraoxonase (PON) enzyme gene is not a genetic risk factor for non-insulin-dependent diabetes mellitus in Finns.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 254, doi. 10.1111/j.1399-0004.1998.tb04298.x
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Erratum.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 258, doi. 10.1111/j.1399-0004.1998.tb04300.x
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- Article
Identification of two novel mutations in the OCRLI gene in Japanese families with Lowe syndrome.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 199, doi. 10.1111/j.1399-0004.1998.tb04284.x
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- Article
Three novel PROC gene lesions causing protein C deficiency.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 231, doi. 10.1111/j.1399-0004.1998.tb04290.x
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Methods to detect the RYR1 G742A and A1565C mutations associated with malignant hyperthermia using a PCR-modified restriction sites technique.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 242, doi. 10.1111/j.1399-0004.1998.tb04293.x
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- Article
Severe mental retardation - distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a lOq25→qter deletion.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 224, doi. 10.1111/j.1399-0004.1998.tb04289.x
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- Article
Dinucleotide repeat polymorphism within the tumor suppressor gene PTCH at 9q22.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 239, doi. 10.1111/j.1399-0004.1998.tb04292.x
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- Article
Natural born killer: tau protein and its role in dementia.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 176, doi. 10.1111/j.1399-0004.1998.tb04280.x
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- Article
New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 169, doi. 10.1111/j.1399-0004.1998.tb04279.x
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- Article
Generalised muscle hypertonia with mask-like face (Freeman-Sheldon syndrome) in a Tanzanian girl.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 252, doi. 10.1111/j.1399-0004.1998.tb04297.x
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- Article
Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipoluscinosis.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 234, doi. 10.1111/j.1399-0004.1998.tb04291.x
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- Article
Lack of association between ACE gene polymorphisms and 4 and asthma in British and Japanese populations.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 245, doi. 10.1111/j.1399-0004.1998.tb04294.x
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- Article
Acheiropodia: new cases from Brazil.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 256, doi. 10.1111/j.1399-0004.1998.tb04299.x
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Severe classical congenital muscular dystrophy and merosin expression.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 193, doi. 10.1111/j.1399-0004.1998.tb04283.x
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Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 179, doi. 10.1111/j.1399-0004.1998.tb04281.x
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A family with three germline mutations in BRCAl and BRCA2.
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- Clinical Genetics, 1998, v. 54, n. 3, p. 215, doi. 10.1111/j.1399-0004.1998.tb04287.x
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- Article