Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome

M L Jones; S L Murden; D Bem; S J Mundell; P Gissen; M E Daly; S P Watson; A D Mumford; UK GAPP Study Group

doi:10.1111/j.1538-7836.2011.04569.x

Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome

M L Jones
, S L Murden
, D Bem
, S J Mundell
, P Gissen
, M E Daly
, S P Watson
, A D Mumford
, UK GAPP Study Group

Research output: Contribution to journal › Article (Academic Journal) › peer-review

28 Citations (Scopus)

Original language	English
Pages (from-to)	306-9
Number of pages	4
Journal	Litte<acute>ratures classiques (Title of volume: The<acute>a<circumflex>tre et musique au XVIIe sie<grave>cle) (Editor of issue: C. Mazouer)
Volume	10
Issue number	2
DOIs	https://doi.org/10.1111/j.1538-7836.2011.04569.x
Publication status	Published - Feb 2012

Keywords

Adult
Blood Coagulation Disorders, Inherited
Consanguinity
Genotype
Hermanski-Pudlak Syndrome
Humans
Male
Phenotype
Pilot Projects
Polymorphism, Single Nucleotide
Proteins
Sequence Analysis, DNA

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Jones, M. L., Murden, S. L., Bem, D., Mundell, S. J., Gissen, P., Daly, M. E., Watson, S. P., Mumford, A. D., & UK GAPP Study Group (2012). Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome. Litte<acute>ratures classiques (Title of volume: The<acute>a<circumflex>tre et musique au XVIIe sie<grave>cle) (Editor of issue: C. Mazouer), 10(2), 306-9. https://doi.org/10.1111/j.1538-7836.2011.04569.x

Jones, M L ; Murden, S L ; Bem, D et al. / Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing : proof-of-principle with Hermansky-Pudlak syndrome. In: Litte<acute>ratures classiques (Title of volume: The<acute>a<circumflex>tre et musique au XVIIe sie<grave>cle) (Editor of issue: C. Mazouer). 2012 ; Vol. 10, No. 2. pp. 306-9.

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title = "Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome",

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author = "Jones, \{M L\} and Murden, \{S L\} and D Bem and Mundell, \{S J\} and P Gissen and Daly, \{M E\} and Watson, \{S P\} and Mumford, \{A D\} and \{UK GAPP Study Group\}",

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Jones, ML, Murden, SL, Bem, D, Mundell, SJ, Gissen, P, Daly, ME, Watson, SP, Mumford, AD & UK GAPP Study Group 2012, 'Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome', Litte<acute>ratures classiques (Title of volume: The<acute>a<circumflex>tre et musique au XVIIe sie<grave>cle) (Editor of issue: C. Mazouer), vol. 10, no. 2, pp. 306-9. https://doi.org/10.1111/j.1538-7836.2011.04569.x

Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome. / Jones, M L; Murden, S L; Bem, D et al.
In: Litte<acute>ratures classiques (Title of volume: The<acute>a<circumflex>tre et musique au XVIIe sie<grave>cle) (Editor of issue: C. Mazouer), Vol. 10, No. 2, 02.2012, p. 306-9.

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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AU - Mumford, A D

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PY - 2012/2

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KW - Adult

KW - Blood Coagulation Disorders, Inherited

KW - Consanguinity

KW - Genotype

KW - Hermanski-Pudlak Syndrome

KW - Humans

KW - Male

KW - Phenotype

KW - Pilot Projects

KW - Polymorphism, Single Nucleotide

KW - Proteins

KW - Sequence Analysis, DNA

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Jones ML, Murden SL, Bem D, Mundell SJ, Gissen P, Daly ME et al. Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome. Litte<acute>ratures classiques (Title of volume: The<acute>a<circumflex>tre et musique au XVIIe sie<grave>cle) (Editor of issue: C. Mazouer). 2012 Feb;10(2):306-9. doi: 10.1111/j.1538-7836.2011.04569.x