PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases

Nucleic Acids Research

Volumn 26, Issue 1, 1998, Pages 220-225

  Nowacki, Piotr M ^a   Byck, Susan ^a   Prevost, Lynne ^a   Scriver, Charles R ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; DATA BASE; GENE MUTATION; GENOTYPE; HAPLOTYPE; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ANIMALS; CHROMOSOME MAPPING; COMPUTER COMMUNICATION NETWORKS; DATABASES, FACTUAL; HUMANS; INFORMATION STORAGE AND RETRIEVAL; MICE; MODELS, MOLECULAR; MUTATION; PHENYLALANINE HYDROXYLASE; POLYMORPHISM, GENETIC; SOFTWARE;

EID: 0031813245     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: 10.1093/nar/26.1.220     Document Type: Article

References (20)

1. Scriver,C.R., Cotton,R., Antonarakis,S. and McKusick,V. (1997) Genome Digest, 4, 12-15.
2. Krawczak,M. and Cooper,D.N. (1995) Nature, 374, 402
3. Bassett,D.E.J., Boguski,M.S., Spencer,F., Reeves,R., Su-hyon,K., Weaver,T. and Hieter,P. (1997) Nature Genet., 15, 339-344.
4. Hoang,L., Byck,S., Prevost,L., Scriver,C.R. and curators (1996) Nucleic Acids Res., 24, 127-131.
5. Nowacki,P., Byck,S., Prevost,L. and Scriver,C.R. (1997) Nucleic Acids Res., 25, 139-142.
6. Nowacki,P. and Scriver,C.R. (1997) http://ariel.ucs.unimeib.edu.au:80/ ~cotton/proposals.htm
7. John,S.W., Rozen,R., Laframboise,R., Laberge,C. and Scriver,C.R. (1989) Am. J. Hum. Genet., 45, 905-909.
8. Beutler,E., McKusick,V.A., Motolsky,A.G., Scriver,C.R. and Hutchinson,F. (1996) Hum. Mut., 8, 203-206.
9. Konecki,D.S., Wang,Y., Trefz,F.K., Lichter-Konecki,U. and Woo,S.L.C. (1992) Biochemistry, 31, 8363-8368.
10. Ellingsen,S., Knappskog,P.M. and Eiken,H.G. (1997) Hum. Mut., 9, 88-90.
11. Byck,S., Morgan,K., Tyfield,L., Dworniczak,B. and Scriver,C.R. (1994) Hum. Mol. Genet., 3, 1675-1677.
12. Scriver,C.R., Kaufman,S., Eisensmith,E. and Woo,S.L.C. (1995) In Scriver,C.R., Beaudet,A.L., Sly,W.S. and Valle,D. (eds), The Metabolic and Molecular Bases of Inherited Disease. 7th Edition. McGraw Hill Book Co, New York. pp. 1015-1075.
13. Kayaalp,E., Treacy,E., Waters,P.J., Byck,S., Nowacki,R and Scriver,C.R. (1998) Am. J. Hum. Genet., in press.
14. Treacy,E.P., Delente,J.J., Elkas,G., Carter,K., Lambert,M., Waters,P. and Scriver,C.R. (1997) Pediatric Res., in press.
15. Waters,J., Parniak,M.A., Nowacki,P. and Scriver,C.R. (1997) Hum. Mut., 10, in press (December issue).
16. Scriver,C.R., Byck,S., Prevost,L., Hoang,L. and PAH Mutation Analysis Consortium (1996) In Variation in the Human Genome. John Wiley and Sons, Chichester, UK. pp. 73-96.
17. Byck,S., Morgan,K., Blanc,L. and Scriver,C.R. (1996) Am. J. Hum. Genet., 59, A33(142) (Abstract).
18. Sarkissian,C., Lee,K.C., Danagher,P., Leung,R., Fuller,M.A. and Scriver,C.R. (1996) Am. J. Hum. Genet., 59, A207(1183) (Abstract).
19. Byck,S., Tyfield,L., Carter,K. and Scriver,C.R. (1997) Hum. Mut., 9, 316-321.
20. Carter,K.C., Byck,S., Waters,P.J., Richards,B., Nowacki,P.M., Laframboise,R., Lambert,M., Treacy,E. and Scriver,C.R. (1998) Eur. J. Hum. Genet., in press.