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Research 30 of 491
- A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (<i>Hr<sup>rh-R</sup></i>) in the Hairless Gene (<i>Hr</i>)
- A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
- Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
- Identification of a recurrent nonsense mutation in <i>HR</i> gene responsible for atrichia with papular lesions in two Kashmiri families
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
- Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
- A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa
- A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
- 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- <i>C2orf37</i> mutational spectrum in Woodhouse–Sakati syndrome patients
- Phenotypic variability associated with<i>WNT10A</i>nonsense mutations
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
- A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
- Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
- 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
- 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
- Association analysis of polymorphisms in six keratin genes with wool traits in sheep
- Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
- Severe metabolic disorders coexisting with Werner syndrome: a case report
- Corneodesmosin: Structure, Function and Involvement in Pathophysiology