This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

. 1990 Feb 17;335(8686):418.

doi: 10.1016/0140-6736(90)90259-8.

"Founder" effect in different families with haemophilia B mutation

A R Thompson, S P Bajaj, S H Chen, R T MacGillivray

PMID: 1968152
DOI: 10.1016/0140-6736(90)90259-8

"Founder" effect in different families with haemophilia B mutation

A R Thompson et al. Lancet. 1990.

. 1990 Feb 17;335(8686):418.

doi: 10.1016/0140-6736(90)90259-8.

Authors

A R Thompson, S P Bajaj, S H Chen, R T MacGillivray

PMID: 1968152
DOI: 10.1016/0140-6736(90)90259-8

No abstract available

PubMed Disclaimer

Similar articles

Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B.
Simhadri VL, Hamasaki-Katagiri N, Lin BC, Hunt R, Jha S, Tseng SC, Wu A, Bentley AA, Zichel R, Lu Q, Zhu L, Freedberg DI, Monroe DM, Sauna ZE, Peters R, Komar AA, Kimchi-Sarfaty C. Simhadri VL, et al. J Med Genet. 2017 May;54(5):338-345. doi: 10.1136/jmedgenet-2016-104072. Epub 2016 Dec 22. J Med Genet. 2017. PMID: 28007939 Free PMC article.
Consequences of factor IX mutations in 26 families with haemophilia B.
Weinmann AF, Murphy ME, Thompson AR. Weinmann AF, et al. Br J Haematol. 1998 Jan;100(1):58-61. doi: 10.1046/j.1365-2141.1998.00512.x. Br J Haematol. 1998. PMID: 9450791
Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.
Wulff K, Bykowska K, Lopaciuk S, Herrmann FH. Wulff K, et al. Acta Biochim Pol. 1999;46(3):721-6. Acta Biochim Pol. 1999. PMID: 10698280
Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.
Attali O, Vinciguerra C, Trzeciak MC, Durin A, Pernod G, Gay V, Ménart C, Sobas F, Dechavanne M, Négrier C. Attali O, et al. Thromb Haemost. 1999 Nov;82(5):1437-42. Thromb Haemost. 1999. PMID: 10595634
The molecular basis of haemophilia B.
Lillicrap D. Lillicrap D. Haemophilia. 1998 Jul;4(4):350-7. doi: 10.1046/j.1365-2516.1998.440350.x. Haemophilia. 1998. PMID: 9873754 Review.

See all similar articles

Cited by

CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.
Chen SH, Zhang M, Lovrien EW, Scott CR, Thompson AR. Chen SH, et al. Hum Genet. 1991 Jun;87(2):177-82. doi: 10.1007/BF00204177. Hum Genet. 1991. PMID: 2066105
T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.
Ketterling RP, Bottema CD, Koeberl DD, Ii S, Sommer SS. Ketterling RP, et al. Hum Genet. 1991 Jul;87(3):333-7. doi: 10.1007/BF00200915. Hum Genet. 1991. PMID: 1864609
Identification of mutations in two families with sporadic hemophilia A.
Paynton C, Sarkar G, Sommer SS. Paynton C, et al. Hum Genet. 1991 Aug;87(4):397-400. doi: 10.1007/BF00197155. Hum Genet. 1991. PMID: 1908817
Haemophilia A and haemophilia B: molecular insights.
Bowen DJ. Bowen DJ. Mol Pathol. 2002 Feb;55(1):1-18. doi: 10.1136/mp.55.1.1. Mol Pathol. 2002. Corrected and republished in: Mol Pathol. 2002 Apr;55(2):127-44. doi: 10.1136/mp.55.2.127. PMID: 11836440 Free PMC article. Corrected and republished. Review.
Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.
Khan MTM, Naz A, Ahmed J, Shamsi T, Ahmed S, Ahmed N, Imran A, Farooq N, Khan MTH, Taj AS. Khan MTM, et al. Clin Appl Thromb Hemost. 2018 Jul;24(5):741-748. doi: 10.1177/1076029617721011. Epub 2017 Jul 28. Clin Appl Thromb Hemost. 2018. PMID: 28752769 Free PMC article.

See all "Cited by" articles

Publication types

Actions
Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions

Grants and funding

HL-31193/HL/NHLBI NIH HHS/United States

LinkOut - more resources

Full Text Sources
- Elsevier Science