Phenotype-genotype correlations in patients with Marinesco- Sjögren syndrome

Clinical Genetics

Volumn 86, Issue 1, 2014, Pages 74-84

  Ezgu, F ^a,b   Krejci, P ^a,c,d,e   Li, S ^f   de Sousa, C ^g   Graham, J M ^a,e   Hansmann, I ^h   He, W ⁱ   Porpora, K ^a   Wand, D ^h   Wertelecki, W ^j   Schneider, A ^k   Wilcox, W R ^a,e  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^c MASARYK UNIVERSITY   (Czech Republic)

^d INSTITUTE OF BIOPHYSICS   (Czech Republic)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^h MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

ⁱ UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^j UNIVERSITY OF SOUTH ALABAMA   (United States)

^k ALBERT EINSTEIN MEDICAL CENTER   (United States)

more..

Author keywords

BIP associated protein; Endoplasmic reticulum stress; Marinesco Sjogren Syndrome; SIL1

Indexed keywords

BIP ASSOCIATED PROTEIN; CREATINE KINASE; PROTEIN; UNCLASSIFIED DRUG; GUANINE NUCLEOTIDE EXCHANGE FACTOR; PRIMER DNA; SIL1 PROTEIN, HUMAN;

ARTICLE; ATAXIA; CATARACT; CELL INCLUSION; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CLINICAL ARTICLE; COHORT ANALYSIS; CREATINE KINASE BLOOD LEVEL; ECZEMA; ELECTRON MICROSCOPY; FAILURE TO THRIVE; FEMALE; FIBROBLAST; FIBROBLAST CULTURE; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; GROWTH HORMONE DEFICIENCY; HUMAN; HUMAN TISSUE; HYPOTHYROIDISM; INFANT; IRIS COLOBOMA; ITALY; JAPANESE (PEOPLE); MALE; MARINESCO SJOGREN SYNDROME; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SEIZURE; SHORT STATURE; SIL1 GENE; SOMALIA; TOOTH DISEASE; UNITED STATES; WESTERN BLOTTING; DNA SEQUENCE; GENETICS; GENOTYPE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; SPINOCEREBELLAR DEGENERATION; TRANSMISSION ELECTRON MICROSCOPY;

BASE SEQUENCE; BLOTTING, WESTERN; CHILD, PRESCHOOL; DNA PRIMERS; FEMALE; GENOTYPE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SPINOCEREBELLAR DEGENERATIONS;

EID: 84901690811     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12230     Document Type: Article

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