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- Abstract: Phenylketonria (PKU ) is one kind of autosomal recessive disease caused by phenylalanine hydroxylase(PAH ) gene mutation. 苯丙酮尿癥是由于苯丙氨酸羥化酶基因突變引起的常染色體隱性遺傳病。
- Xeroderma pigmentosum is an autosomal recessive disease. 著(zhù)色性干皮病是一種常染色體的退行性疾病。
- Multiple carboxylase deficiency (MCD) is an autosomal recessive disorder of inherited metabolic diseases. 多種羧化酶缺陷癥(MCD)是一種常染色體隱性遺傳的先天遺傳代謝性疾病。
- Harlequin ichthyosis （HI）is a severe subtype of autosomal recessive congenital ichthyoses (ARCI). 丑角樣魚(yú)鱗病是常染色體隱性遺傳性魚(yú)鱗病的一種嚴重亞型。
- The "Lutino" sex-linked recessive mutation is a perfect example of a type of cockatiel that are the hardest to sex visually. 通常在各個(gè)變種中，于成鳥(niǎo)時(shí)會(huì )有兩性異形的外觀(guān)差異，而幼鳥(niǎo)時(shí)則是同形的特徵，就像母鳥(niǎo)一樣。
- Results The genetic pattern of IEP is not polygenic but is mainly influenced by autosomal recessive disorders. 結果IEP不符合多基因遺傳，而主要為常染色體隱體遺傳。
- Congenital adrenal hyperplasia is a genetic disorder transmitted by autosomal recessive pattern. 摘要先天性腎上腺增生癥是一種自體隱性遺傳病。
- It can be autosomal dominant, autosomal recessive, or X-linked mode of inheritance. 他可以是體染色體顯性、體染色體隱性、或是性聯(lián)遺傳等方式的遺傳疾病。
- The recurrence risk for this disease is, of course, 25% because of the autosomal recessive inheritance pattern. 因為它是常染色體隱性遺傳的，所以它在家族中的發(fā)病率是25%25。
- It is a common occurrence in dogs and is thought to be a sex-limited autosomal recessive trait. 該疾病常發(fā)于犬，并被認為具有限性常染色體隱性遺傳特征。
- We report an infant delivered at 31 weeks gestation with restrictive dermopathy, which is a rare autosomal recessive genodermatosis. 摘要我們報告一拘束性皮膚病變的31周出生嬰兒，其為一罕見(jiàn)的，體隱性遺傳皮膚病。
- Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism. 摘要楓糖尿癥是支鏈氨基酸代謝異常的體染色體隱性遺傳疾病。
- The frequencies of non Mongolia wrinkle were 15.41% and 5.42%,the frequencies of autosomal recessive inheritance were 0.3925 and 0.2328 respectively. 蒙古褶為無(wú)的出現率分別為15.;41%25和5
- Objective:To investigate the clinical features of an autosomal recessive inherited ataxia pedigree and exclude known causal genes. 目的:探討常染色體隱性遺傳性共濟失調家系的臨床特征并排除已知的致病基因。
- Complex vertebral malformation (CVM), a lethal autosomal recessive inherited defect in Holstein breed, was newly reported in Demark. 摘要荷斯坦奶牛脊柱畸形綜合征是近年新發(fā)現的一種常染色體隱性遺傳病，該病對純合子胎兒是致死性的。
- Gelatinous drop-like corneal dystrophy (GDLD) is an autosomal recessive hereditary disease, which may result in bilateral loss of vision. 摘要膠滴狀角膜營(yíng)養不良是一種罕見(jiàn)的常染色體隱性遺傳病，可導致視力嚴重障礙甚至失明。
- In dogs, CA is also usually an autosomal recessive gene, but in a few breeds, such as the English Pointer, the gene is sex-linked. 在犬類(lèi)中，小腦活力缺失通常是常染色體隱性基因遺傳病，但在少數品種中，例如英國指示獵犬，該疾病由性染色體連鎖遺傳。
- Apparent mineralocorticoid excess is an autosomal recessive cause of hypertension and hypokalaemia which responds to glucocorticoid treatment. 什麼是'表觀(guān)鹽皮質(zhì)激素過(guò)多-遺傳疾病導致血壓高'?
- There are three kinds of inherited patterns including autosomal dominant,autosomal recessive and X-linked recessive in inherited congenital cataract. 與遺傳有關(guān)的先天性白內障有多種遺傳方式,其致病基因、基因突變的位點(diǎn)和引起先天性白內障的表現型相繼被發(fā)現。
- It is usually inherited as an autosomal dominant trait, although autosomal recessive and X-linked inheritance are seen less commonly. 人群中，大部分遺傳性白內障是外顯率較高的常染色體顯性遺傳，但也有X連鎖和常染色體隱性遺傳存在。
