A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 281, doi. 10.1002/humu.1380040409
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 1994 AND VI 4 AND IP 4
Results: 12
1
2
Marked zinc activation of ester hydrolysis by a mutation, 67-His (CAT) to Arg (CGT), in the active site of human carbonic anhydrase I.
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 294, doi. 10.1002/humu.1380040411
- By:
- Publication type:
- Article
3
Characterization of two novel adenomatous polyposis coli ( APC) gene mutations in patients with familial adenomatous polyposis (FAP).
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 253, doi. 10.1002/humu.1380040404
- By:
- Publication type:
- Article
4
FH-Sydney 1 and 2: Two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation.
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 276, doi. 10.1002/humu.1380040408
- By:
- Publication type:
- Article
5
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 291, doi. 10.1002/humu.1380040410
- By:
- Publication type:
- Article
6
Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 243, doi. 10.1002/humu.1380040403
- By:
- Publication type:
- Article
7
Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska genetic semen bank.
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 271, doi. 10.1002/humu.1380040407
- By:
- Publication type:
- Article
8
Molecular genetics of metachromatic leukodystrophy.
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 233, doi. 10.1002/humu.1380040402
- By:
- Publication type:
- Article
9
Mutation analysis of Jewish hunter patients in Israel.
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 263, doi. 10.1002/humu.1380040406
- By:
- Publication type:
- Article
10
Masthead.
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. fmi, doi. 10.1002/humu.1380040401
- Publication type:
- Article
11
Phenylketonuria in Southern Poland: A new splice mutation in intron 9 at the PAH locus.
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 297, doi. 10.1002/humu.1380040412
- By:
- Publication type:
- Article
12
Autosomal dominant spondylarthropathy due to a type II procollagen gene(COL2A1) point mutation.
- Published in:
- Human Mutation, 1994, v. 4, n. 4, p. 257, doi. 10.1002/humu.1380040405
- By:
- Publication type:
- Article