Suchergebnisse - "Amino Acid Substitution"

PubPharm (27)

1

Population variation in linkage disequilibrium across the COMT gene considering promoter region and coding region variation

enthalten in: Human genetics | 2002

von DeMille, M. | Kidd, J. | Ruggeri, V. | +11

2

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM

enthalten in: Human genetics | 1999

von Friend, K. | Crimmins, D. | Phan, T. | +6

3

Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53

enthalten in: Human genetics | 1999

von Wacey, A. | Cooper, D. | Liney, D. | +2

4

Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria

enthalten in: Human genetics | 1998

von Mustajoki, S. | Pihlaja, H. | Ahola, H. | +3

5

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

enthalten in: Human genetics | 1998

von DeStefano, A. | Cupples, L. | Arnos, K. | +16

6

DNA polymorphisms and haplotypes in the human transferrin gene

enthalten in: Human genetics | 1998

von Beckman, L. | Van Landeghem, G. | Sikström, C. | +1

7

Phenotype-genotype correlation in haemochromatosis subjects

enthalten in: Human genetics | 1997

von Mura, C. | Nousbaum, J. | Verger, P. | +4

8

Human transferrin (Tf): a single mutation at codon 570 determines Tf C1 or Tf C2 variant

enthalten in: Human genetics | 1997

von Namekata, K. | Oyama, F. | Imagawa, M. | +1

9

Analysis of the allelic diversity of a (CA)n repeat polymorphism among α1-antitrypsin gene products from northern Portugal

enthalten in: Human genetics | 1997

von Rocha, J. | Pinto, D. | Santos, M. | +4

10

Identification of a Ser857-Asn857 substitution in DRK1 (KCNB1), population frequencies and lack of association to the low voltage alpha EEG trait

enthalten in: Human genetics | 1996

von Mazzanti, C. | Bergen, A. | Enoch, M. | +2