A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
about
A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Oryctolagus cuniculus)Identification and characterization of a novel lysophosphatidic acid receptor, p2y5/LPA6The heterotrimeric G protein subunits Gα(q) and Gβ(1) have lysophospholipase D activityHighly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlationsA novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosisAutosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 geneLIPH expression in skin and hair follicles of normal coat and Rex rabbits.Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hairEnpp2/Autotaxin in dermal papilla precursors is dispensable for hair follicle morphogenesisGenetics of human isolated hereditary hair loss disorders.Sequence and expression of the chicken membrane-associated phospholipases A1 alpha (LIPH) and beta (LIPI).Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.Association of AHSG with alopecia and mental retardation (APMR) syndrome.Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair.Comparative structures and evolution of vertebrate lipase H (LIPH) genes and proteins: a relative of the phospholipase A1 gene families.Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
P2860
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P2860
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
description
2007 nî lūn-bûn
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2007 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2007 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2007年の論文
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2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
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name
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
@ast
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
@en
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
@nl
type
label
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
@ast
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
@en
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
@nl
prefLabel
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
@ast
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
@en
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
@nl
P2093
P1433
P1476
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
@en
P2093
Ghazanfar Ali
Muhammad Salman Chishti
Peter John
Syed Irfan Raza
Wasim Ahmad
P2888
P304
P356
10.1007/S00439-007-0344-0
P407
P577
2007-05-01T00:00:00Z
P5875
P6179
1012981213