Human Gene Mutation Database: Towards a comprehensive central mutation database

Journal of Medical Genetics

Volumn 45, Issue 2, 2008, Pages 124-126

  Stenson, P D ^a   Ball, E ^a   Howells, K ^a   Phillips, A ^a   Mort, M ^a   Cooper, D N ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; DATA BASE; DISEASE ASSOCIATION; GENE MUTATION; GENOME; LETTER; PRIORITY JOURNAL;

DATABASES, GENETIC; GENOME, HUMAN; HUMANS; MUTATION;

EID: 39149103362     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.055210     Document Type: Letter

References (3)

1. George RA, Smith TD, Callaghan S, Hardman L, Pierides C, Horaitis O, Wouters MA, Cotton RGH. General mutation databases: analysis and review. J Med Genet 2008;45:65-70.
2. Dworniczak B, Aulehla-Scholz C, Horst J. Phenylketonuria: detection of a frequent haplotype 4 allele mutation. Hum Genet 1989;84:95-6.
3. Hennermann JB, Vetter B, Wolf C, Windt E, Bührdel P, Seidel J, Mönch E, Kulozik AE. Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. Hum Mutat 2000;15:254-60.