Works matching IS 10597794 AND DT 2001 AND VI 18 AND IP 2
Results: 16
Expression and analysis of CLN2 variants in CHO cells: Q100r represents a polymorphism, and G389E and R447H represent loss-of-function mutations.
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- Human Mutation, 2001, v. 18, n. 2, p. 165, doi. 10.1002/humu.1170
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- Article
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
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- Human Mutation, 2001, v. 18, n. 2, p. 101, doi. 10.1002/humu.1159
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Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer.
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- Human Mutation, 2001, v. 18, n. 2, p. 163, doi. 10.1002/humu.1167
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DHPLC analysis of the MECP2 gene in Italian Rett patients.
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- Human Mutation, 2001, v. 18, n. 2, p. 132, doi. 10.1002/humu.1162
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Population screening if F508del (ΔF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina.
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- Human Mutation, 2001, v. 18, n. 2, p. 167, doi. 10.1002/humu.1173
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Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).
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- Human Mutation, 2001, v. 18, n. 2, p. 163, doi. 10.1002/humu.1166
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Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
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- Human Mutation, 2001, v. 18, n. 2, p. 141, doi. 10.1002/humu.1163
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Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity.
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- Human Mutation, 2001, v. 18, n. 2, p. 120, doi. 10.1002/humu.1161
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Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis.
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- Human Mutation, 2001, v. 18, n. 2, p. 166, doi. 10.1002/humu.1172
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A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males.
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- Human Mutation, 2001, v. 18, n. 2, p. 157, doi. 10.1002/humu.1165
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Using linked markers to infer the age of a mutation.
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- Human Mutation, 2001, v. 18, n. 2, p. 87, doi. 10.1002/humu.1158
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Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
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- Human Mutation, 2001, v. 18, n. 2, p. 164, doi. 10.1002/humu.1169
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Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
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- Human Mutation, 2001, v. 18, n. 2, p. 109, doi. 10.1002/humu.1160
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- Article
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
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- Human Mutation, 2001, v. 18, n. 2, p. 165, doi. 10.1002/humu.1171
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Detection of germline mutations in the BRCA1 gene by RNA-based sequencing.
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- Human Mutation, 2001, v. 18, n. 2, p. 149, doi. 10.1002/humu.1164
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- Article
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
- Published in:
- Human Mutation, 2001, v. 18, n. 2, p. 164, doi. 10.1002/humu.1168
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- Article