Human hepatic lipase mutations and polymorphisms.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 320, doi. 10.1002/humu.1380010410
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 1992 AND VI 1 AND IP 4
Results: 14
1
2
Replication errors may contribute to the generation of large deletions and duplications in the dystrophin gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 280, doi. 10.1002/humu.1380010403
- By:
- Publication type:
- Article
3
A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 344, doi. 10.1002/humu.1380010414
- By:
- Publication type:
- Article
4
A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 303, doi. 10.1002/humu.1380010407
- By:
- Publication type:
- Article
5
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 271, doi. 10.1002/humu.1380010402
- By:
- Publication type:
- Article
6
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 340, doi. 10.1002/humu.1380010413
- By:
- Publication type:
- Article
7
Molecular basis of hexosamininidase a deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 298, doi. 10.1002/humu.1380010406
- By:
- Publication type:
- Article
8
Masthead.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. fmi, doi. 10.1002/humu.1380010401
- Publication type:
- Article
9
α-L-iduronidase mutations (Q<sub>70</sub>X and P<sub>533</sub>R) associate with a severe Hurler phenotype.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 333, doi. 10.1002/humu.1380010412
- By:
- Publication type:
- Article
10
A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 293, doi. 10.1002/humu.1380010405
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- Publication type:
- Article
11
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 314, doi. 10.1002/humu.1380010409
- By:
- Publication type:
- Article
12
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 325, doi. 10.1002/humu.1380010411
- By:
- Publication type:
- Article
13
A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 288, doi. 10.1002/humu.1380010404
- By:
- Publication type:
- Article
14
Screening for cystic fibrosis mutations in Southern France: Identification of a frameshift mutation and two missense variations.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 310, doi. 10.1002/humu.1380010408
- By:
- Publication type:
- Article