about
Oculocutaneous albinismMutational analysis of oculocutaneous albinism: a compact reviewAP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytesA germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiencyMutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto RicoA gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino AmericansCurrent Strategies in Diagnosis of Inherited Storage Pool DefectsOcular findings in the Hermansky-Pudlak syndrome.Vision in albinism.Albinism: modern molecular diagnosisOcular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).Complicated Crohn's-like colitis, associated with Hermansky-Pudlak syndrome, treated with Infliximab: a case report and brief review of the literature.A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto RicoEvidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndromeGenetic and socioeconomic study of mate choice in Latinos reveals novel assortment patterns.Hermansky-pudlak syndrome: report of a case and review of the literature.Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosisHermansky-Pudlak syndrome type 1 in patients of Indian descent.Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding)Storage pool diseases illuminate platelet dense granule biogenesis.Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico.Hermansky-Pudlak syndrome type 4 with interstitial pneumonia.Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.Metabolic and storage lung diseases: spectrum of imaging appearances.A case of hermansky-pudlak syndrome with pulmonary sarcoidosis.Pigmentation, pleiotropy, and genetic pathways in humans and mice.Hermansky-Pudlak syndrome in two African-American brothers
P2860
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P2860
description
1990 nî lūn-bûn
@nan
1990 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
@ast
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
@en
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
@nl
type
label
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
@ast
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
@en
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
@nl
prefLabel
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
@ast
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
@en
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
@nl
P2093
P1476
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
@en
P2093
Nuñez Babcock M
Shanahan F
Summers CG
Townsend D
P304
P577
1990-08-01T00:00:00Z