Uniparental disomy (UPD) in clinical genetics [electronic resource] : a guide for clinicians and patients
| 000 | 00000nam u2200205 a 4500 | |
| 001 | 000046049969 | |
| 005 | 20201016130917 | |
| 006 | m d | |
| 007 | cr | |
| 008 | 201005s2014 gw a ob 001 0 eng d | |
| 020 | ▼a 9783642552885 | |
| 040 | ▼a 211009 ▼c 211009 ▼d 211009 | |
| 050 | 4 | ▼a RB155.5 |
| 082 | 0 4 | ▼a 610.042 ▼2 23 |
| 084 | ▼a 610.042 ▼2 DDCK | |
| 090 | ▼a 610.042 | |
| 100 | 1 | ▼a Liehr, Thomas. |
| 245 | 1 0 | ▼a Uniparental disomy (UPD) in clinical genetics ▼h [electronic resource] : ▼b a guide for clinicians and patients / ▼c Thomas Liehr ; with contributions by Unique. |
| 246 | 3 | ▼a Uniparental disomy in clinical genetics |
| 246 | 3 | ▼a UPD in clinical genetics |
| 260 | ▼a Berlin ; ▼a Heidelberg : ▼b Springer Berlin Heidelberg : ▼b Imprint: Springer, ▼c 2014. | |
| 300 | ▼a 1 online resource (xviii, 192 p.) : ▼b ill. | |
| 500 | ▼a Title from e-Book title page. | |
| 504 | ▼a Includes bibliographical references and index. | |
| 505 | 0 | ▼a Introduction -- Formation of UPD -- UPD in diagnostics and genetic counseling -- UPD related syndromes caused by imprinting -- Maternal UPD by chromosome -- Paternal UPD by chromosome -- UPD of unclear parental origin by chromosome -- UPD of multiple chromosomes or chromosomal regions -- Acquired UPD -- Patient organizations in connection with UPD-. Glossary-. References -- Index. |
| 520 | ▼a This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims. | |
| 530 | ▼a Issued also as a book. | |
| 538 | ▼a Mode of access: World Wide Web. | |
| 650 | 0 | ▼a Genetic disorders. |
| 710 | 2 | ▼a Unique. |
| 856 | 4 0 | ▼u https://oca.korea.ac.kr/link.n2s?url=http://dx.doi.org/10.1007/978-3-642-55288-5 |
| 945 | ▼a KLPA | |
| 991 | ▼a E-Book(소장) |
소장정보
| No. | 소장처 | 청구기호 | 등록번호 | 도서상태 | 반납예정일 | 예약 | 서비스 |
|---|---|---|---|---|---|---|---|
| No. 1 | 소장처 중앙도서관/e-Book 컬렉션/ | 청구기호 CR 610.042 | 등록번호 E14034829 | 도서상태 대출불가(열람가능) | 반납예정일 | 예약 | 서비스 |