Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico
about
Mutational analysis of oculocutaneous albinism: a compact reviewPharmacogenetics of healthy volunteers in Puerto RicoMTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers.Hermansky-Pudlak syndrome: the importance of molecular subtypingOcular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).Early alveolar epithelial dysfunction promotes lung inflammation in a mouse model of Hermansky-Pudlak syndrome.Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndromeThe hermansky-pudlak syndrome: clinical features and imperatives from an ophthalmic perspective.Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report.Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico.Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism.Hermansky-Pudlak Syndrome.
P2860
Q21284502-E0229C8F-B22D-448D-ACE9-F44F5DAE2E2FQ26779038-09895C65-678A-4493-A542-BB3ACF31A9ABQ34012667-0D1EDF87-146E-4533-8728-7B68C4432915Q34017395-22BA26A9-1E71-43FD-BDD9-2C24FB37ABE8Q34514157-4F7EC6C6-5011-4603-93E6-F24AB744F15CQ35219750-A7309754-7294-474F-BBFD-4FDDAE45BCA0Q35541668-4A798172-5F04-417A-A55E-1D6747C07559Q36457840-2F3A46EA-F3A8-4B0B-BCD8-99D654888AA2Q38153734-EBDCFA6C-9122-4171-A83C-F978B787F6BEQ40183657-8FAFFDA2-260E-4CB8-A3D9-1C4D7AD3644AQ40206262-AEB7F236-8F92-404C-B6B0-D081DED312EDQ40263134-15D1152E-A98D-4937-9BB8-AA28449AE004Q41631897-5BE0CC69-E4CB-44E3-A29E-DF8540EDEE6AQ47778127-93AFFBDF-46DC-4C46-A65B-CCE7A49CD57AQ51577302-2582211D-1DBC-48A6-933C-4555B121B781
P2860
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico
description
2006 nî lūn-bûn
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2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Genetic testing for oculocutan ...... and 3 mutations in Puerto Rico
@ast
Genetic testing for oculocutan ...... and 3 mutations in Puerto Rico
@en
Genetic testing for oculocutan ...... and 3 mutations in Puerto Rico
@nl
type
label
Genetic testing for oculocutan ...... and 3 mutations in Puerto Rico
@ast
Genetic testing for oculocutan ...... and 3 mutations in Puerto Rico
@en
Genetic testing for oculocutan ...... and 3 mutations in Puerto Rico
@nl
prefLabel
Genetic testing for oculocutan ...... and 3 mutations in Puerto Rico
@ast
Genetic testing for oculocutan ...... and 3 mutations in Puerto Rico
@en
Genetic testing for oculocutan ...... and 3 mutations in Puerto Rico
@nl
P2093
P2860
P356
P1476
Genetic testing for oculocutan ...... and 3 mutations in Puerto Rico
@en
P2093
Carmen L Cadilla
Daniel Muñoz
Enid Rivera-Caragol
Glorivee Pagán-Mercado
Idith Ortíz
Jessicca Y Renta
Laura Del Fierro
Natalio J Izquierdo
Norma López Molina
Pedro J Santiago Borrero
P2860
P2888
P356
10.1038/SJ.JID.5700034
P407
P577
2006-01-01T00:00:00Z
P5875
P6179
1030574560