Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis

Publisher： John Wiley & Sons Inc

E-ISSN： 1346-8138|42|7|752-753

ISSN： 0385-2407

Source： THE JOURNAL OF DERMATOLOGY, Vol.42, Iss.7, 2015-07, pp. : 752-753

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis

By  

THE JOURNAL OF DERMATOLOGY, Vol. 42, Iss. 8, 2015-08 ,pp. : 822-824

John Wiley & Sons Inc

Access to resources Recommend Favorite

Mutations in the lipase‐H gene causing autosomal recessive hypotrichosis and woolly hair

By  

AUSTRALASIAN JOURNAL OF DERMATOLOGY, Vol. 56, Iss. 3, 2015-08 ,pp. : e66-e70

John Wiley & Sons Inc

Access to resources Recommend Favorite

Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix

By  

INTERNATIONAL JOURNAL OF DERMATOLOGY, Vol. 54, Iss. 10, 2015-10 ,pp. : 1163-1168

John Wiley & Sons Inc

Access to resources Recommend Favorite

Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix

By  

INTERNATIONAL JOURNAL OF DERMATOLOGY, Vol. 11-9059, Iss. 10, 2015-10 ,pp. : 1163-1168

John Wiley & Sons Inc

Access to resources Recommend Favorite

Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ‐module

By  

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Vol. 13, Iss. 8, 2015-08 ,pp. : 1459-1467

John Wiley & Sons Inc

Access to resources Recommend Favorite