Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.
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A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Oryctolagus cuniculus)Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlationsA homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hairIn silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.A case of autosomal recessive woolly hair/hypotrichosis with alternation in severity: deterioration and improvement with age.Congenital hair loss disorders: rare, but not too rare.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.
P2860
Q21135469-2C0007B2-51D2-49E0-99F5-99F407F9BC49Q28539920-50348C67-EC4B-4A00-933F-DC53A44C2989Q30376504-8C212D34-5EFB-4E47-938B-9788709FC07DQ34041844-B11A6A14-157D-48D4-B7F1-A62229828DB1Q37514038-090560C8-56B2-429C-9473-678E29FAC01FQ37951619-FA6F0393-7A43-432F-9F7B-063F1DFF35AEQ49964038-18514EF0-CDF4-4DB6-934C-9865D9B8C126Q53015057-3C1E622F-0EBC-4018-8296-1DE3C552FC08
P2860
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
2009年论文
@zh
2009年论文
@zh-cn
name
Mutations in the LIPH gene in ...... ive woolly hair/hypotrichosis.
@en
type
label
Mutations in the LIPH gene in ...... ive woolly hair/hypotrichosis.
@en
prefLabel
Mutations in the LIPH gene in ...... ive woolly hair/hypotrichosis.
@en
P2093
P2860
P1476
Mutations in the LIPH gene in ...... ive woolly hair/hypotrichosis.
@en
P2093
Angela M Christiano
Masaaki Ito
Yutaka Shimomura
P2860
P304
P356
10.1016/J.JDERMSCI.2009.08.005
P577
2009-11-04T00:00:00Z