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Volumn 58, Issue 6, 1996, Pages 1185-1191
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A novel mutation in the putative DNA helicase XH2 is responsible for male- to-female sex reversal associated with an atypical form of the ATR-X syndrome
a
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Author keywords
[No Author keywords available]
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Indexed keywords
COMPLEMENTARY DNA;
DNA;
HELICASE;
RNA;
ALPHA THALASSEMIA;
ARTICLE;
CLINICAL ARTICLE;
CLINICAL FEATURE;
CYTOGENETICS;
FEMALE;
GENE MUTATION;
GONADAL DYSGENESIS;
HUMAN;
HUMAN CELL;
MALE;
MENTAL RETARDATION MALFORMATION SYNDROME;
MULTIPLE MALFORMATION SYNDROME;
OCULAR ALBINISM;
OPTIC NERVE ATROPHY;
PEDIGREE ANALYSIS;
PRIORITY JOURNAL;
X CHROMOSOME LINKED DISORDER;
ABNORMALITIES, MULTIPLE;
ADOLESCENT;
ALPHA-THALASSEMIA;
ALTERNATIVE SPLICING;
AMINO ACID SEQUENCE;
BASE SEQUENCE;
DNA HELICASES;
DNA PRIMERS;
EXONS;
FEMALE;
GENETIC MARKERS;
GONADAL DYSGENESIS, 46,XY;
HUMANS;
INFANT;
INTRONS;
MALE;
MENTAL RETARDATION;
MOLECULAR SEQUENCE DATA;
NUCLEAR PROTEINS;
PEDIGREE;
PHENOTYPE;
POLYMERASE CHAIN REACTION;
RNA PRECURSORS;
SEQUENCE DELETION;
SEX REVERSAL, GONADAL;
SYNDROME;
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EID: 0029919960
PISSN: 00029297
EISSN: None
Source Type: Journal
DOI: None Document Type: Article |
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Times cited : (59)
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References (0)
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