MUTATION IN PHOSPHOLIPASE C, delta 1 (PLCD1) GENE UNDERLIES HEREDITARY LEUKONYCHIA IN A PASHTUN FAMILY AND REVIEW OF THE LITERATURE

Khan A. K.; Khan S. A.; Muhammad Na; Muhammad No; Ahmad J.; Nawaz H.; Nasir A.; Farman S.; Khan S.

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MUTATION IN PHOSPHOLIPASE C, delta 1 (PLCD1) GENE UNDERLIES HEREDITARY LEUKONYCHIA IN A PASHTUN FAMILY AND REVIEW OF THE LITERATURE

机译：磷脂酶C，Delta 1（PLCD1）基因的突变在帕什屯家族中解除了遗传性白血病，并对文献进行了审查

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Human hereditary leukonychia is a rare nail disorder characterized by nail plates whitening on all finger and toe nails. Inheritance pattern is both autosomal dominant and recessive. To date, the only gene, phospholipase C, delta 1 (PLCD1), on chromosome 3p22.2 has been reported to be involved in hereditary leukonychia. In the present study, a family of Pakhtun ethnicity, carrying leukonychia phenotype was investigated. The family inherited the phenotype in an autosomal dominant fashion. Affected individuals exhibited characteristic features of hereditary leukonychia with involvement of nails on both the hands and feet. Sequence analysis of DNA detected a p.Cys209Arg mutation, reported for the first time in a Pakistani Pashtun family.

机译：人类遗传性菌落是一种罕见的钉子障碍，其特征在于所有手指和脚趾钉的钉子平板。遗传模式是常染色体的主导和隐性。迄今为止，据报道，迄今为止迄今为止染色体3p222的唯一基因，磷脂酶c，δ1（plcd1）参与遗传性白血病。在本研究中，研究了一家携带Leukonychia表型的Pakhtun种族。该家族以常染色体显性方式遗传了表型。受影响的个体表现出遗传性Leukonychia的特征特征，在手和脚上参与钉子。 DNA的序列分析检测到P.Cys209arg突变，在巴基斯坦Pashtun家族中首次报道。

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《Balkan journal of medical genetics: BJMG》 |2018年第1期|共4页
作者
Khan A. K.; Khan S. A.; Muhammad Na; Muhammad No; Ahmad J.; Nawaz H.; Nasir A.; Farman S.; Khan S.;
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作者单位

Kohat Univ Sci &

Technol Dept Biotechnol &

Genet Engn Banu Rd Kohat 26000 Khyber Pakhtunk;

Kohat Univ Sci &

Technol Dept Biotechnol &

Genet Engn Banu Rd Kohat 26000 Khyber Pakhtunk;

Kohat Univ Sci &

Technol Dept Biotechnol &

Genet Engn Banu Rd Kohat 26000 Khyber Pakhtunk;

Kohat Univ Sci &

Technol Dept Biotechnol &

Genet Engn Banu Rd Kohat 26000 Khyber Pakhtunk;

Univ Peshawar Ctr Biotechnol &

Microbiol COBAM Khyber Pakhtunkhwa Pakistan;

Kohat Univ Sci &

Technol Dept Biotechnol &

Genet Engn Banu Rd Kohat 26000 Khyber Pakhtunk;

Quaid I Azam Univ Dept Biochem Fac Biol Sci Islamabad Pakistan;

Abdul Wali Khan Univ Dept Biochem Mardan Pakistan;

Kohat Univ Sci &

Technol Dept Biotechnol &

Genet Engn Banu Rd Kohat 26000 Khyber Pakhtunk;

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原文格式 PDF
正文语种 eng
中图分类遗传学;
关键词
Leukonychia; Mutation; Pashtun family; Phospholipase C; delta 1 (PLCD1) gene;

机译：Leukonychia;突变;Pashtun家族;磷脂酶C;Delta 1（PLCD1）基因;

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专利

1. MUTATION IN PHOSPHOLIPASE C, delta 1 (PLCD1) GENE UNDERLIES HEREDITARY LEUKONYCHIA IN A PASHTUN FAMILY AND REVIEW OF THE LITERATURE [J] . Khan A. K., Khan S. A., Muhammad Na, Balkan journal of medical genetics: BJMG . 2018,第1期

机译：磷脂酶C，Delta 1（PLCD1）基因的突变在帕什屯家族中解除了遗传性白血病，并对文献进行了审查
2. Mutation in Phospholipase C, ?′1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature [J] . AK Khan, SA Khan, Na Muhammad, Balkan journal of medical genetics: BJMG . 2018,第1期

机译：磷脂酶C，α'1（PLCD1）基因的突变是Pashtun家族遗传性白内障的基础，并有文献综述
3. Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature [J] . Kapoor Saketh, Kodaganur Srinivas Gopinath, Kumar Arun, Molecular vision . 2013,第2013期

机译：先天性遗传性内皮营养不良2的印度家庭中SLC4A11基因的突变分析和文献综述
4. HEREDITARY AMYLOIDOSIS IN A SPANISH FAMILY ASSOCIATED WITH A NOVEL NONSTOP MUTATION IN THE GENE FOR APOL1POPROTEIN All [C] . D. Rowczenio, J.A. Gilbertson, A. Bybee, International Symposium on Amyloidosis . 2005

机译：西班牙家庭的遗传性淀粉样蛋白病与Apol1poprotein基因中的一种新的非级别突变相关
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6. Mutation in Phospholipase C δ1 (PLCD1) Gene Underlies Hereditary Leukonychia in a Pashtun Family and Review of The Literature [O] . AK Khan, SA Khan, Na Muhammad, 2018

机译：磷脂酶Cδ1（PLCD1）基因的突变是普什图家族遗传性白内障的基础和文献综述
7. Mutation in Phospholipase C, δ1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature [O] . AK Khan, SA Khan, Na Muhammad, 2018

机译：磷脂酶C，δ1（PLCD1）基因在Pashtun家族中解除遗传性Leukonychia的突变，并对文献进行审查

MUTATION IN PHOSPHOLIPASE C, delta 1 (PLCD1) GENE UNDERLIES HEREDITARY LEUKONYCHIA IN A PASHTUN FAMILY AND REVIEW OF THE LITERATURE

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