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Volumn 34, Issue 8, 2013, Pages 1111-1118

ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

(63) Sarkozy, Anna a Hicks, Debbie a Hudson, Judith a Laval, Steve H a Barresi, Rita b Hilton Jones, David c Deschauer, Marcus d Harris, Elizabeth a Rufibach, Laura e Hwang, Esther e Bashir, Rumaisa f Walter, Maggie C g Krause, Sabine g van den Bergh, Peter h Illa, Isabel i Pénisson Besnier, Isabelle j De Waele, Liesbeth a,ap Turnbull, Doug k,l Guglieri, Michela a Schrank, Bertold m more..

a INSTITUTE OF HUMAN GENETICS (United Kingdom)

b NEWCASTLE DENTAL HOSPITAL (United Kingdom)

c JOHN RADCLIFFE HOSPITAL (United Kingdom)

d MARTIN LUTHER UNIVERSITY HALLE WITTENBERG (Germany)

e Jain Foundation Inc (United States)

f DURHAM UNIVERSITY (United Kingdom)

g LUDWIG MAXIMILIANS UNIVERSITY (Germany)

h CLINIQUES UNIVERSITAIRES SAINT LUC (Belgium)

i HOSPITAL DE LA SANTA CREU I SANT PAU (Spain)

more..

Author keywords

ANO5; Gender; LGMD2L; Muscular dystrophy

Indexed keywords

ANO5 PROTEIN; COMPLEMENTARY DNA; GENOMIC DNA; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; DNA SCREENING; EUROPE; EXON; FEMALE; GENE DOSAGE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; LEG; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MALE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; START CODON;

ANO5; GENDER; LGMD2L; MUSCULAR DYSTROPHY;

ADULT; AGED; CHLORIDE CHANNELS; EUROPE; FEMALE; GENETIC VARIATION; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PHENOTYPE; PREVALENCE; RETROSPECTIVE STUDIES; SEX FACTORS;

EID: 84880509203 PISSN: 10597794 EISSN: 10981004 Source Type: Journal
DOI: 10.1002/humu.22342 Document Type: Article

Times cited : (62)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.