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Hermansky-Pudlak syndrome type 1: gene organization,novel mutations,and clinical-molecular review of non-Puerto Rican cases |
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| Authors: | Hermos Christina R Huizing Marjan Kaiser-Kupfer Muriel I Gahl William A |
| Affiliation: | Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892-1851, USA. |
| Abstract: | |
| Keywords: | albinism mutation analysis autosomal recessive platelet dense bodies storage pool deficiency HPS1 |
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