Gene Locus : human-LIPH
Mode of mutation : Natural mutant
Disease : Hypotrichosis
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
found in a compound heterozygote with C246S
Title : Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient - Minakawa_2024_Front.Med.(Lausanne)_11_1374222 |
Author(s) : Minakawa S , Matsuzaki Y , Higashino T , Suzuki T , Tomita H , Akasaka E , Sawamura D |
Ref : Front Med (Lausanne) , 11 :1374222 , 2024 |
Abstract : |
PubMedSearch : Minakawa_2024_Front.Med.(Lausanne)_11_1374222 |
PubMedID: 38818404 |
Gene_locus related to this paper: human-LIPH |