A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky Pudlak syndrome (HPS8)

N Morgan; S Pasha; J R Ainsworth; R A J Eady; C McKeown; R C Trembath; J Wilde; C A Johnson; E R Maher

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky Pudlak syndrome (HPS8)

N Morgan, S Pasha, J R Ainsworth, R A J Eady, C McKeown, R C Trembath, J Wilde, C A Johnson, E R Maher

Research output: Contribution to journal › Meeting abstract

Original language	English
Pages (from-to)	S18 - S18
Journal	Journal of Medical Genetics
Volume	42
Publication status	Published - 2005
Event	British Human Genetics Conference - York, ENGLAND, United Kingdom Duration: 12 Sept 2005 → 14 Sept 2005

Cite this

@article{d036a0336b6e4aabb91411859e9ddb39,

title = "A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky Pudlak syndrome (HPS8)",

author = "N Morgan and S Pasha and Ainsworth, {J R} and Eady, {R A J} and C McKeown and Trembath, {R C} and J Wilde and Johnson, {C A} and Maher, {E R}",

year = "2005",

language = "English",

volume = "42",

pages = "S18 -- S18",

journal = "Journal of Medical Genetics",

issn = "1468-6244",

publisher = "B M J PUBLISHING GROUP",

note = "British Human Genetics Conference ; Conference date: 12-09-2005 Through 14-09-2005",

}

TY - JOUR

T1 - A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky Pudlak syndrome (HPS8)

AU - Morgan, N

AU - Pasha, S

AU - Ainsworth, J R

AU - Eady, R A J

AU - McKeown, C

AU - Trembath, R C

AU - Wilde, J

AU - Johnson, C A

AU - Maher, E R

PY - 2005

Y1 - 2005

M3 - Meeting abstract

SN - 1468-6244

VL - 42

SP - S18 - S18

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

T2 - British Human Genetics Conference

Y2 - 12 September 2005 through 14 September 2005

ER -