Genotype analysis identifies the cause of the "royal disease"

Science

Volumn 326, Issue 5954, 2009, Pages 817-

  Rogaev, Evgeny I ^a,b,c,d   Grigorenko, Anastasia P ^a,b,c   Faskhutdinova, Gulnaz ^a   Kittler, Ellen L W ^a   Moliaka, Yuri K ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^b VAVILOV INSTITUTE OF GENERAL GENETICS   (Russian Federation)

^c MENTAL HEALTH RESEARCH CENTER   (Russian Federation)

^d MOSCOW STATE UNIVERSITY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; MITOCHONDRIAL DNA;

BLOOD SYSTEM DISORDER; DISEASE TREATMENT; DNA; GENETIC ANALYSIS; MUTATION; RNA;

AMPLICON; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD CLOTTING DISORDER; BLOOD DISEASE; DELETION MUTANT; DNA SPLICING; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; HEMOPHILIA; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHORT SURVEY; STOP CODON; X CHROMOSOME;

ALLELES; CHROMOSOMES, HUMAN, X; CODON, NONSENSE; EUROPE; FACTOR IX; FAMOUS PERSONS; FEMALE; GENES, X-LINKED; GENOTYPE; HEMOPHILIA B; HETEROZYGOTE; HISTORY, 19TH CENTURY; HISTORY, 20TH CENTURY; HUMANS; INTRONS; MALE; PEDIGREE; POINT MUTATION; RNA SPLICING;

EID: 70449380377     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1180660     Document Type: Short Survey

References (7)

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2. C. Ojeda-Thies, E. C. Rodriguez-Merchan, Haemophilia 9, 153 (2003).
3. E. I. Rogaev et al., Proc. Natl. Acad. Sci. U.S.A. 106, 5258 (2009).
4. Materials and methods are available as supporting material on Science Online.
5. G. C. White et al., Thromb. Haemost. 85, 560 (2001).
6. Single-letter abbreviations for the amino acid residues are as follows: C, Cys; D, Asp; E, Glu; G, Gly; H, His; I, lle; K, Lys; L, Leu; M, Met; N, Asn; P, Pro; Q, Gln; S, Ser; V, Val; and Y, Tyr.
7. We thank T. Andreeva, A. Goltsov, I. Morozova, A. Tazetdinov for technical support; V. Gromov and N. Nevolin for assistance with the bone samples; S. Denisov and A. Mironov for bioinformatics; and A. Chikunov for general support.