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1057411 occurrences (No.2 in the rank) during 5 years in the PubMed. [no cache] 500 found

132) Two patients had p.G61E in a heterozygous status with no other mutation, while one patient had no mutation(s).

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PMID:24099281 DOI:10.3109/13816810.2013.841961

2015 Ophthalmic genetics

* CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia.

- To describe the genotype and phenotype in 14 unrelated Saudis with juvenile open angle glaucoma (JOAG). Detailed clinical examination was carried out and we sequenced cytochrome P450, family 1, subfamily B (CYP1B1), Myocilin (MYOC) and latent-transforming growth factor beta-binding protein 2 (LTBP2) genes. Twelve (85.7%) patients had apparent sporadic inheritance and 2 (14.3%) presented with a family history of glaucoma. Overall, 12 patients (85.7%) had CYP1B1 mutation. Nine patients had CYP1B1 mutations in a homozygous status. Eight of these had homozygous p.G61E mutation and one had a silent (no amino acid change) sequence change. Two patients had p.G61E mutation in a compound heterozygous status with another CYP1B1 mutation (p.L432V). Two patients had p.G61E in a heterozygous status with no other mutation, while one patient had no mutation(s). None of the patients had any mutation(s) in the MYOC or LTBP2 genes. JOAG associated with CYP1B1 mutations occurs at a high rate in the Saudi population. A specific genotype-phenotype relationship was not demonstrated.

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(1)52 with	(17)4 MSCs	(33)3 subsequently	(49)2 motivation
(2)30 was	(18)4 education	(34)2 Education	(50)2 of
(3)20 null	(19)4 presenting	(35)2 achieved	(51)2 outcome
(4)18 and	(20)4 required	(36)2 age	(52)2 pain
(5)15 had	(21)4 safety	(37)2 as	(53)2 population
(6)12 who	(22)4 to	(38)2 assessment	(54)2 population,
(7)11 care	(23)4 were	(39)2 being	(55)2 received
(8)7 is	(24)3 characteristics	(40)2 can	(56)2 remained
(9)7 survival	(25)3 comfort	(41)2 computational	(57)2 remains
(10)7 underwent	(26)3 died	(42)2 data	(58)2 reported
(11)6 developed	(27)3 group	(43)2 days	(59)2 response
(12)6 outcomes	(28)3 information	(44)2 empowerment	(60)2 responses
(13)6 satisfaction	(29)3 life	(45)2 factors,	(61)2 symptoms
(14)5 groups	(30)3 on	(46)2 for	(62)2 the
(15)5 in	(31)3 postoperative	(47)2 immunomigration
(16)5 presented	(32)3 referral	(48)2 including

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--- WordNet output for patient --- =>がまん強い, 忍耐強い, 辛抱強い, 根気よく働く, 患者, 病人, 忠者 Overview of noun patient The noun patient has 2 senses (first 1 from tagged texts) 1. (73) patient -- (a person who requires medical care; "the number of emergency patients has grown rapidly") 2. affected role, patient role, patient -- (the semantic role of an entity that is not the agent but is directly involved in or affected by the happening denoted by the verb in the clause) Overview of adj patient The adj patient has 1 sense (first 1 from tagged texts) 1. (3) patient -- (enduring trying circumstances with even temper or characterized by such endurance; "a patient smile"; "was patient with the children"; "an exact and patient scientist"; "please be patient") --- WordNet end ---