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1 r dystrophy associated with skin blistering (epidermolysis bullosa simplex).
2 s in EXPH5 in an autosomal recessive form of epidermolysis bullosa simplex.
3 e motif have been described in patients with epidermolysis bullosa simplex.
4 vidence of phenotype-genotype correlation in epidermolysis bullosa simplex.
5 mutations in either of these genes can cause epidermolysis bullosa simplex.
6 g seen in the genetic disorder Dowling-Meara epidermolysis bullosa simplex.
7 al trials of bone marrow transplantation for epidermolysis bullosa simplex.
8 athy type VI (caused by a loss of DST-a) and Epidermolysis bullosa simplex 3 (caused by a loss of DST
9 d in skin lead to human disorders, including epidermolysis bullosa simplex and epidermolytic hyperker
10                                              Epidermolysis bullosa simplex are dominant disorders of
11                                              Epidermolysis bullosa simplex associated with late-onset
12                                           In epidermolysis bullosa simplex associated with plectin mu
13                                              Epidermolysis bullosa simplex Dowling-Meara (MIM# 131760
14 dy we sequenced these genes in a family with epidermolysis bullosa simplex Dowling-Meara.
15              Through studies that began with epidermolysis bullosa simplex (EBS) and now extend to a
16                                              Epidermolysis bullosa simplex (EBS) is a group of autoso
17                                  Importance: Epidermolysis bullosa simplex (EBS) is a group of clinic
18                                              Epidermolysis bullosa simplex (EBS) is a mechano-bullous
19                                              Epidermolysis bullosa simplex (EBS) is a rare genetic co
20                                              Epidermolysis bullosa simplex (EBS) is a rare inherited
21                                              Epidermolysis bullosa simplex (EBS) is a severe and pote
22                                              Epidermolysis bullosa simplex (EBS) is an incurable, inh
23                                              Epidermolysis bullosa simplex (EBS) is an inherited skin
24                                              Epidermolysis bullosa simplex (EBS) refers to a heteroge
25  severity in individuals with a diagnosis of epidermolysis bullosa simplex (EBS) resulting from patho
26                 The blistering skin disorder epidermolysis bullosa simplex (EBS) results from dominan
27           Mutations in K5 or K14 genes cause epidermolysis bullosa simplex (EBS), a disorder with bli
28  The best-studied skin fragility disorder is epidermolysis bullosa simplex (EBS), an autosomal domina
29                          One such disease is epidermolysis bullosa simplex (EBS), caused by mutations
30 ins keratin 5 (K5) or keratin 14 (K14) cause epidermolysis bullosa simplex (EBS), in which basal laye
31  junctions (NMJs) in patients suffering from epidermolysis bullosa simplex (EBS)-muscular dystrophy (
32 ns 5 or 14 are implicated in the etiology of epidermolysis bullosa simplex (EBS).
33  proteasomal degradation, ultimately causing epidermolysis bullosa simplex (EBS).
34 owledge, previously unreported therapies for epidermolysis bullosa simplex (EBS).
35                 The Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) is a severe blist
36 ing disorders, epidermolytic hyperkeratosis, epidermolysis bullosa simplex, epidermolytic palmoplanta
37 e K5 head domain residue T150 in cytoplasmic epidermolysis bullosa simplex granules containing R125C
38             The severe Dowling-Meara form of epidermolysis bullosa simplex is caused by dominant-nega
39 istic feature of the skin blistering disease epidermolysis bullosa simplex is keratin filament (KF) n
40          To date, mutant-specific siRNAs for epidermolysis bullosa simplex, pachyonychia congenita an
41 rmation and function with a possible role in epidermolysis bullosa simplex pathogenesis.
42                           This is the second epidermolysis bullosa simplex patient reported with a pr
43                                 We report an epidermolysis bullosa simplex patient with a novel singl
44                                 Mutations in epidermolysis bullosa simplex patients could interfere w
45 common mutation in the Dowling-Meara form of epidermolysis bullosa simplex patients is the missense m
46 models that more faithfully recapitulate the epidermolysis bullosa simplex phenotype, is advisable be
47  the palmoplantar distribution seen in other epidermolysis bullosa simplex subtypes, extensive herpet
48 7600) is the most severe of the three common epidermolysis bullosa simplex subtypes.
49 cal vitelliform macular dystrophy (VMD1) and epidermolysis bullosa simplex, type Ogna (EBS1).
50 plantation could be applied to patients with epidermolysis bullosa simplex with intraepidermal bliste
51 utation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate e
52 everal distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation
53 ents suffering from plectinopathy-associated epidermolysis bullosa simplex with muscular dystrophy (E
54                                              Epidermolysis bullosa simplex with muscular dystrophy (E
55  skin from patients with autosomal recessive epidermolysis bullosa simplex with plectin defects (n =